ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly)

gnomAD frequency: 0.00005  dbSNP: rs199680718
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493809 SCV000583112 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing The S3073G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S3073G variant is observed in 18/66368 (0.03%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Illumina Laboratory Services, Illumina RCV001142819 SCV001303303 benign 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 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063859 SCV002373151 likely benign Bethlem myopathy 1A 2023-07-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000493809 SCV004235458 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing

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