ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.440A>G (p.His147Arg)

gnomAD frequency: 0.00002  dbSNP: rs188859796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472179 SCV000550577 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-11-06 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 147 of the WWOX protein (p.His147Arg). This variant is present in population databases (rs188859796, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of WWOX-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 410082). 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.
Ambry Genetics RCV003168819 SCV003886031 uncertain significance Inborn genetic diseases 2023-03-13 criteria provided, single submitter clinical testing The c.440A>G (p.H147R) alteration is located in exon 5 (coding exon 5) of the WWOX gene. This alteration results from a A to G substitution at nucleotide position 440, causing the histidine (H) at amino acid position 147 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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