ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.568G>T (p.Val190Leu)

dbSNP: rs769400934
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296533 SCV001485499 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-05-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with WWOX-related conditions. This variant is present in population databases (rs769400934, ExAC 0.006%). This sequence change replaces valine with leucine at codon 190 of the WWOX protein (p.Val190Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine.

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