ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.851A>G (p.Lys284Arg)

gnomAD frequency: 0.00010  dbSNP: rs897453553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532362 SCV000652363 benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2023-08-07 criteria provided, single submitter clinical testing
GeneDx RCV001591051 SCV001822823 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GeneDx RCV000414593 SCV000492129 uncertain significance not specified 2016-11-21 flagged submission clinical testing A variant of uncertain significance has been identified in the WWOX gene. The K284R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,100 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 K284R 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 that is not conserved and in silico analysis predicts this variant likely does not alter 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.

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