Submissions for variant NM_000520.6(HEXA):c.1317C>G (p.Pro439=)

dbSNP: rs1003506073

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002122226	SCV002390994	likely benign	Tay-Sachs disease	2024-12-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002382360	SCV002694745	likely benign	Inborn genetic diseases	2021-12-16	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.
CeGaT Center for Human Genetics Tuebingen	RCV003395387	SCV004132778	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	HEXA: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003958682	SCV004775708	likely benign	HEXA-related disorder	2020-01-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).