ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.43C>T (p.Arg15Cys)

gnomAD frequency: 0.00001  dbSNP: rs1311634962
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233844 SCV001406458 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-07-26 criteria provided, single submitter clinical testing 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 C15"). 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. ClinVar contains an entry for this variant (Variation ID: 960337). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. 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 sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 15 of the PEX13 protein (p.Arg15Cys).

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