ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.46G>C (p.Gly16Arg)

dbSNP: rs1774098770
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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 RCV001303383 SCV001492625 uncertain significance Peroxisome biogenesis disorder 9B 2020-08-10 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PEX7-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glycine with arginine at codon 16 of the PEX7 protein (p.Gly16Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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