ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.173-6T>G

gnomAD frequency: 0.00004  dbSNP: rs200812468
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692826 SCV000820669 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2023-11-07 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the WWOX gene. It does not directly change the encoded amino acid sequence of the WWOX protein. This variant is present in population databases (rs200812468, gnomAD 0.006%). This variant has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 571630). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001335816 SCV001529054 uncertain significance Developmental and epileptic encephalopathy, 28 2018-11-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002532222 SCV003559045 uncertain significance Inborn genetic diseases 2021-12-15 criteria provided, single submitter clinical testing The c.173-6T>G intronic alteration consists of a T to G substitution 6 nucleotides before coding exon 3 in the WWOX gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003148830 SCV003837455 likely pathogenic not provided 2023-11-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign in association with WWOX-related disorders to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 33916893)
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252636 SCV001428397 likely pathogenic Developmental and epileptic encephalopathy, 1 2019-01-01 no assertion criteria provided clinical testing

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