ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln)

gnomAD frequency: 0.00005  dbSNP: rs886057155
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000324514 SCV000436532 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Institute of Human Genetics, University of Goettingen RCV001261410 SCV001438334 uncertain significance Bethlem myopathy 1A 2020-09-16 criteria provided, single submitter clinical testing ACMG criteria used for classification: PM1, PM2, PP2, BP4
GeneDx RCV001764309 SCV002001129 uncertain significance not provided 2020-06-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001261410 SCV002158796 benign Bethlem myopathy 1A 2024-01-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001764309 SCV003833782 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing

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