ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.968C>G (p.Pro323Arg)

dbSNP: rs1567570468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000714218 SCV000844911 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868334 SCV002204894 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-07-08 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"). ClinVar contains an entry for this variant (Variation ID: 586945). This variant has not been reported in the literature in individuals affected with WWOX-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 323 of the WWOX protein (p.Pro323Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine.

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