ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.953C>T (p.Ser318Leu)

gnomAD frequency: 0.00003  dbSNP: rs770023814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696482 SCV000825045 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 318 of the WWOX protein (p.Ser318Leu). This variant is present in population databases (rs770023814, gnomAD 0.007%). This missense change has been observed in individual(s) with WWOX-related disorders (PMID: 30356099). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 574528). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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.
GeneDx RCV001567822 SCV001791576 likely pathogenic not provided 2019-06-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30356099, 24932569)
Centogene AG - the Rare Disease Company RCV001809762 SCV002059675 uncertain significance Developmental and epileptic encephalopathy, 28 2021-05-25 criteria provided, single submitter clinical testing

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