ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.131G>A (p.Trp44Ter)

dbSNP: rs1057517846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414691 SCV000490881 pathogenic not provided 2022-06-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26077850, 30577886, 27495153)
Labcorp Genetics (formerly Invitae), Labcorp RCV001850983 SCV002245491 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp44*) in the WWOX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WWOX are known to be pathogenic (PMID: 24456803, 25411445). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of WWOX-related conditions (PMID: 26077850, 27495153). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 372547). This variant is not present in population databases (ExAC no frequency).

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