ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.566G>A (p.Ser189Asn) (rs776354746)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519802 SCV000621429 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the WWOX gene. The S189N variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S189N variant is observed in 4/30778 (0.01%) alleles from individuals of South Asian background (Lek et al., 2016). The S189N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts thisvariant is probably damaging to the protein structure/function. Therefore, based on the currentlyavailable information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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