Submissions for variant NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)

gnomAD frequency: 0.00148  dbSNP: rs144830948

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000541944	SCV000196787	benign	not provided	2020-10-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23040494, 15689448, no PMID, 24271325, 27535533)
Eurofins Ntd Llc (ga)	RCV000149936	SCV000331147	benign	not specified	2017-04-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000370345	SCV000436776	likely benign	Collagen 6-related myopathy	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000259316	SCV000436777	likely benign	Myosclerosis	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000990372	SCV000657155	benign	Bethlem myopathy 1	2024-01-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000990372	SCV001141326	likely benign	Bethlem myopathy 1	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000541944	SCV001153591	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	COL6A2: BP4, BS2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV000990372	SCV001435223	benign	Bethlem myopathy 1		criteria provided, single submitter	research	The heterozygous p.Arg853Gln variant in COL6A2 has been identified in 2 individuals, 1 with Bethlem myopathy and 1 with trisomy 21 and atrioventricular septal defect (PMID: 15689448, 23040494), but has also been identified in >1% of South Asian chromosomes and 4 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for Bethlem myopathy.
Fulgent Genetics, Fulgent Genetics	RCV002505139	SCV002810856	likely benign	Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Myosclerosis	2022-01-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905281	SCV004727284	benign	COL6A2-related condition	2021-08-19	criteria provided, single submitter	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).