ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.22G>A (p.Val8Met) (rs192476178)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724735 SCV000227239 uncertain significance not provided 2016-10-10 criteria provided, single submitter clinical testing
GeneDx RCV000724735 SCV000572496 uncertain significance not provided 2018-01-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL6A2 gene. The V8M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V8M variant is observed in 35/11320 (0.3%) alleles from individuals of Latino background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000724735 SCV000657141 likely benign not provided 2019-01-14 criteria provided, single submitter clinical testing

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