Submissions for variant NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys)

gnomAD frequency: 0.00016  dbSNP: rs146291186

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725122	SCV000334257	uncertain significance	not provided	2018-07-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319603	SCV000428852	benign	Collagen 6-related myopathy	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000725122	SCV000617950	uncertain significance	not provided	2023-04-06	criteria provided, single submitter	clinical testing	Reported as a variant of uncertain significance in an individual with limb-girdle muscular dystrophy who also harbored a second COL6A3 variant; phase was not reported (Nallamilli et al., 2018); Reported in the homozygous state in two siblings with suspected LGMD (Ozyilmaz et al., 2019); 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: 30564623, 31066050)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001243245	SCV001416390	likely benign	Bethlem myopathy 1A	2025-01-13	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000725122	SCV003834584	uncertain significance	not provided	2020-08-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725122	SCV004699895	uncertain significance	not provided	2024-01-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000725122	SCV005409104	uncertain significance	not provided	2024-09-12	criteria provided, single submitter	clinical testing	PP2, PP3