ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.749C>G (p.Ser250Ter)

gnomAD frequency: 0.00006  dbSNP: rs368928190
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000413095 SCV000337003 pathogenic not provided 2015-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000413095 SCV000491380 likely pathogenic not provided 2023-02-04 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); Has not been previously published as pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 25411445, 24932569, 24456803)
Invitae RCV001385286 SCV001585082 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser250*) 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 present in population databases (rs368928190, gnomAD 0.008%). 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: 284393). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002518924 SCV003737349 pathogenic Inborn genetic diseases 2021-01-13 criteria provided, single submitter clinical testing The c.749C>G (p.S250*) alteration, located in exon 7 (coding exon 7) of the WWOX gene, consists of a C to G substitution at nucleotide position 749. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic.

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