ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.995A>C (p.His332Pro)

gnomAD frequency: 0.00001  dbSNP: rs775584864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461317 SCV000550590 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 332 of the WWOX protein (p.His332Pro). This variant is present in population databases (rs775584864, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with WWOX-related conditions. ClinVar contains an entry for this variant (Variation ID: 410095). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WWOX 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.
Baylor Genetics RCV001335819 SCV001529057 uncertain significance Developmental and epileptic encephalopathy, 28 2018-04-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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