Submissions for variant NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)

gnomAD frequency: 0.00233  dbSNP: rs117725825

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000859498	SCV000196789	likely benign	not provided	2020-09-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20981092, 20729548, 24036952, 17886299, 30564623, 30467950)
Eurofins Ntd Llc (ga)	RCV000149938	SCV000228615	likely benign	not specified	2016-02-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302217	SCV000436812	likely benign	Myosclerosis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000359356	SCV000436813	likely benign	Collagen 6-related myopathy	2017-04-27	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.
Genetic Services Laboratory, University of Chicago	RCV000149938	SCV000594200	likely benign	not specified	2020-05-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000018704	SCV000657174	likely benign	Bethlem myopathy 1A	2025-01-23	criteria provided, single submitter	clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	RCV000018704	SCV001132757	uncertain significance	Bethlem myopathy 1A	2019-12-06	criteria provided, single submitter	clinical testing	A heterozygous missense variation in exon 28 of the COL6A2 gene that results in the amino acid substitution of Leucine for Proline at codon 932 was detected. The observed variant has a minor allele frequency of 0.2% and 0.3% in 1000 genomes and ExAc databases respectively. The observed variation lies in the a2(VI) C2-A domain and has previously been reported in heterozygous state in a patient with Bethlem myopathy. In vitro functional studies have shown variant effect on accumulation of collagen VI in extracellular matrix (Baker et al. 2007). In summary, the variant meets our criteria to be classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000859498	SCV001153594	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	COL6A2: BP4, BS2
Institute of Human Genetics, University of Leipzig Medical Center	RCV000018704	SCV001440238	benign	Bethlem myopathy 1A	2019-01-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000859498	SCV004225559	uncertain significance	not provided	2023-04-03	criteria provided, single submitter	clinical testing
OMIM	RCV003764600	SCV000038987	pathogenic	Bethlem myopathy 1B	2007-10-01	no assertion criteria provided	literature only
GenomeConnect, ClinGen	RCV000359356	SCV000840283	not provided	Collagen 6-related myopathy		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences	RCV004532388	SCV004750498	likely benign	COL6A2-related disorder	2022-08-25	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).