ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.59C>G (p.Ala20Gly)

dbSNP: rs2104787633
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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 RCV001961471 SCV002248657 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2021-09-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 20 of the PEX13 protein (p.Ala20Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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