ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.151G>A (p.Val51Met)

dbSNP: rs2104803197
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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 RCV001966222 SCV002249320 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2021-08-09 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with PEX13-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 51 of the PEX13 protein (p.Val51Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine.

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