Submissions for variant NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg)

gnomAD frequency: 0.00024  dbSNP: rs782560726

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000541130	SCV000640030	benign	Creatine transporter deficiency	2025-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001697309	SCV000715893	likely benign	not provided	2020-07-16	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002314990	SCV000848164	likely benign	Inborn genetic diseases	2023-09-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity	RCV000541130	SCV003823851	uncertain significance	Creatine transporter deficiency	2020-11-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004755956	SCV005355197	benign	SLC6A8-related disorder	2024-09-04	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).