ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.1000C>A (p.Leu334Ile)

gnomAD frequency: 0.00001  dbSNP: rs149581494
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001878610 SCV002124061 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2020-12-21 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PEX13-related conditions. This variant is present in population databases (rs149581494, ExAC 0.01%). This sequence change replaces leucine with isoleucine at codon 334 of the PEX13 protein (p.Leu334Ile). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and isoleucine.

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