ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.91C>T (p.Arg31Trp)

dbSNP: rs767406855
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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 RCV002030363 SCV002273286 uncertain significance Peroxisome biogenesis disorder 2B 2021-09-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 31 of the PEX5 protein (p.Arg31Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with PEX5-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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