ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1291C>T (p.Arg431Trp)

gnomAD frequency: 0.00001  dbSNP: rs765682048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000312965 SCV000341293 uncertain significance not provided 2016-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859666 SCV002247192 uncertain significance Peroxisome biogenesis disorder 2B 2022-06-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 431 of the PEX5 protein (p.Arg431Trp). This variant is present in population databases (rs765682048, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 287504). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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