ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2575G>A (p.Val859Met)

gnomAD frequency: 0.00051  dbSNP: rs370446082
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000281777 SCV000436780 benign Collagen 6-related myopathy 2018-01-13 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.
Illumina Laboratory Services, Illumina RCV000320418 SCV000436781 uncertain significance Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593147 SCV000701470 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000794426 SCV000933831 likely benign Bethlem myopathy 1A 2024-12-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000593147 SCV001248177 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000593147 SCV002098222 uncertain significance not provided 2022-02-09 criteria provided, single submitter clinical testing Reported as a heterozygous variant of uncertain significance in an individual with primary ovarian insufficiency in published literature (Rossetti et al., 2021).; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30564623, 34803902)
Revvity Omics, Revvity RCV000593147 SCV003834144 uncertain significance not provided 2021-07-16 criteria provided, single submitter clinical testing

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