ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1674G>A (p.Ala558=)

gnomAD frequency: 0.00018  dbSNP: rs144334894
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393933 SCV000436705 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303949 SCV000436706 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000730302 SCV000619899 uncertain significance not provided 2023-05-09 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001081672 SCV000657118 likely benign Bethlem myopathy 1A 2025-01-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730302 SCV000858030 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000730302 SCV004225558 uncertain significance not provided 2023-02-27 criteria provided, single submitter clinical testing PP3

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