ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2714T>A (p.Val905Asp)

dbSNP: rs2116132179
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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 RCV002018381 SCV002299854 uncertain significance Zellweger spectrum disorders 2021-02-25 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 905 of the PEX1 protein (p.Val905Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PEX1-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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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