ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)

gnomAD frequency: 0.00001  dbSNP: rs780345312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001823026 SCV002072538 pathogenic Developmental and epileptic encephalopathy, 28 2022-01-12 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_016373.4:c.(516+1_517-1)_(605+1_606-1)del._x000D_ Criteria applied: PM3_VSTR, PM2_SUP, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV001869806 SCV002126887 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2023-07-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 17 of the WWOX protein (p.Glu17Lys). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1338792). This missense change has been observed in individuals with developmental and epileptic encephalopathy (PMID: 30356099, 31618474). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.

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