ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.59C>T (p.Pro20Leu)

gnomAD frequency: 0.00001  dbSNP: rs761638116
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053713 SCV001217989 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2022-10-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 20 of the WWOX protein (p.Pro20Leu). 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. 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: 849697). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002481980 SCV002787464 uncertain significance Malignant tumor of esophagus; Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28 2022-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553761 SCV003560398 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.59C>T (p.P20L) alteration is located in exon 1 (coding exon 1) of the WWOX gene. This alteration results from a C to T substitution at nucleotide position 59, causing the proline (P) at amino acid position 20 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003141985 SCV003823801 uncertain significance not provided 2022-06-25 criteria provided, single submitter clinical testing

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