ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.46_49del (p.Asp16fs)

dbSNP: rs730880291
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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 RCV001850176 SCV002245306 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-09-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp16Serfs*63) 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). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with infantile epileptic encephalopathy (PMID: 25411445). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 180250). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000157087 SCV000206809 pathogenic Developmental and epileptic encephalopathy, 28 2015-01-01 no assertion criteria provided literature only

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