owencqueen/cgbench_data huggingface dataset:
Gene: SLC6A8 (HGNC:11055)
Evidence Code: PS1 — Strong
Modification Type: General recommendation,None
PS1 is applicable as described.
Gene: SLC6A8 (HGNC:11055)
Evidence Code: PS3 — Supporting
Modification Type: Disease-specific,Strength
Creatine transport activity <10% wild type with less than or equal to 125uM creatine used in SLC6A8 deficient fibroblasts


RT-PCR evidence of mis-splicing for non-canonical intronic variants with evidence of normal splice products. For non-canonical splicing variants, RT-PCR evidence demonstrating transcripts of alternative length or specific intron or exon inclusion/exclusion. These studies can be performed in patient derived cells, by placing the mutant genomic DNA into plasmid vectors, or by over-expressing mutant transcript. Assays should demonstrate defective splicing with RT-PCR analysis or RNA sequencing to confirm alternative transcripts.
Gene: SLC6A8 (HGNC:11055)
Evidence Code: PP3 — Supporting
Modification Type: General recommendation
REVEL score >0.75 for missense variants


In frame deletion or insertion predicted deleterious by PROVEAN, MutPred indel, and MutationTaster.


Predicted impact on splicing by SpliceAI and varSEAK.
Gene: SLC6A8 (HGNC:11055)
Evidence Code: BS2 — Strong
Modification Type: None
The variant is observed in ≥2 hemizygotes in gnomAD, or one or more hemizygous male(s) or homozygous female(s) who have documented normal urine creatine/creatine ratio.
Gene: SLC6A8 (HGNC:11055)
Evidence Code: BP4 — Supporting
Modification Type: General recommendation
REVEL score <0.2 for missense variants


In frame deletion or insertion predicted benign by PROVEAN, MutPred indel, and MutationTaster.


No predicted impact on splicing by SpliceAI and varSEAK.
Gene: SLC6A8 (HGNC:11055)
Evidence Code: BP7 — Supporting
Modification Type: General recommendation,None
A synonymous (silent) variant for which splicing prediction algorithms predict no impact to the splice consensus sequence nor the creation of a new splice site AND the nucleotide is not highly conserved.