ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.443G>C (p.Gly148Ala)

gnomAD frequency: 0.00005  dbSNP: rs372660669
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685513 SCV000812997 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 148 of the WWOX protein (p.Gly148Ala). This variant is present in population databases (rs372660669, gnomAD 0.02%). 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: 565848). 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: "Probably Damaging"; 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.
Ambry Genetics RCV003343988 SCV004067872 uncertain significance Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing The c.443G>C (p.G148A) alteration is located in exon 5 (coding exon 5) of the WWOX gene. This alteration results from a G to C substitution at nucleotide position 443, causing the glycine (G) at amino acid position 148 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692075 SCV005193535 uncertain significance not provided criteria provided, single submitter not provided

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