Submissions for variant NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)

gnomAD frequency: 0.00016  dbSNP: rs144801620

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000314635	SCV000338170	likely benign	not specified	2016-06-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000653674	SCV000775557	likely benign	Bethlem myopathy 1A	2024-08-08	criteria provided, single submitter	clinical testing
GeneDx	RCV002274976	SCV002562655	uncertain significance	not provided	2024-02-23	criteria provided, single submitter	clinical testing	Observed in an individual with Emery-Dreifuss muscular dystrophy in the published literature; a second COL6A2 variant was not reported (PMID: 20576434); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23040494, 30564623, 29950560, 20576434)
Revvity Omics, Revvity	RCV002274976	SCV003832457	uncertain significance	not provided	2023-04-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543063	SCV004760584	likely benign	COL6A2-related disorder	2022-10-31	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).