ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser) (rs187336363)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618076 SCV000738716 uncertain significance Cardiovascular phenotype 2016-07-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000519770 SCV000621260 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing The P1031S variant of uncertain significance in the COL5A2 gene has not been published as pathogenic or been reported as benign to our knowledge. P1031S was observed in 8/18,818 (0.04%) alleles from individuals of East Asian ancestry in the gnomAD dataset (Lek et al., 2016). The P1031S 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. Moreover, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved, where S1031 is the wild-type residue in multiple species. Although the P1031S variant is located in the triple helical region of the COL5A2 gene, it does not affect a Glycine residue in a Gly-X-Y motif, where the majority of pathogenic missense variants occur (Stenson et al., 2014; Symoens et al., 2012).

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