ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.1275G>T (p.Arg425Ser) (rs370549716)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436992 SCV000535231 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing The R425S variant in the COL6A3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R425S variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R425S variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R425S as a variant of uncertain significance.

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