ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.1975C>T (p.Arg659Cys) (rs146291186)

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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 RCV000725122 SCV000334257 uncertain significance not provided 2018-07-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319603 SCV000428852 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000725122 SCV000617950 uncertain significance not provided 2018-12-27 criteria provided, single submitter clinical testing The R659C variant in the COL6A3 gene has not been reported previously as a pathogenic variant,nor as a benign variant, to our knowledge. The R659C variant was not observed at any significantfrequency in approximately 6500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The R659C variant is a non-conservative amino acid substitution, which occurs within the VWFA 4domain and Nonhelical region at a position where amino acids with similar properties to Arginine aretolerated across species. In silico analysis predicts this variant is probably damaging to the proteinstructure/function. We interpret R659C as a variant of uncertain significance.

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