ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) (rs114755364)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438931 SCV000524400 uncertain significance not specified 2017-10-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the WWOX gene. The T111S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T111S variant is observed in 251/24012 (1.05%) alleles from individuals of African background in large population cohorts, which is greater than expected for this disorder (Lek et al., 2016). The T111S 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 Threonine 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 RCV000544935 SCV000652347 benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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