ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.421G>A (p.Ala141Thr) (rs369907002)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493095 SCV000581982 uncertain significance not provided 2017-04-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the WWOX gene. The A141T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A141T 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. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the A141T variant is observed in 23/15120 (0.2%) alleles from individuals of South Asian background, including 1 homozygous individual in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Additionally, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with WWOX-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000474561 SCV000550583 benign Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 2017-12-27 criteria provided, single submitter clinical testing

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