ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.856G>A (p.Asp286Asn)

dbSNP: rs374658336
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428045 SCV000536069 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the WWOX gene. The D286N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D286N variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D286N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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