ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.487G>C (p.Ala163Pro)

dbSNP: rs750376002
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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 RCV001912695 SCV002176862 uncertain significance Zellweger spectrum disorders 2021-10-14 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is present in population databases (rs750376002, ExAC 0.002%). This sequence change replaces alanine with proline at codon 163 of the PEX1 protein (p.Ala163Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline.

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