ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.518A>G (p.His173Arg)

gnomAD frequency: 0.00001  dbSNP: rs770595933
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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 RCV001889422 SCV002160795 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2023-08-04 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 1389944). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 173 of the WWOX protein (p.His173Arg). This variant is present in population databases (rs770595933, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with WWOX-related conditions.

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