ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2795C>T (rs117725825)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000149938 SCV000196789 likely benign not specified 2018-02-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000149938 SCV000228615 likely benign not specified 2016-02-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302217 SCV000436812 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359356 SCV000436813 likely benign Collagen VI-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 uncertain significance not specified 2016-01-13 criteria provided, single submitter clinical testing
Invitae RCV000018704 SCV000657174 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000993564 SCV001132757 uncertain significance Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 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 Praxis fuer Humangenetik Tuebingen RCV000859498 SCV001153594 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
OMIM RCV000018704 SCV000038987 pathogenic Bethlem myopathy 1 2007-10-01 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000359356 SCV000840283 not provided Collagen VI-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.

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