ClinVar Miner

Submissions for variant NM_004813.4(PEX16):c.710T>G (p.Leu237Arg)

gnomAD frequency: 0.00001  dbSNP: rs753577538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Elsea Laboratory, Baylor College of Medicine RCV001250071 SCV001424183 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2020-04-01 criteria provided, single submitter clinical testing
Invitae RCV001879771 SCV002148116 uncertain significance Peroxisome biogenesis disorder 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 237 of the PEX16 protein (p.Leu237Arg). This variant is present in population databases (rs753577538, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with PEX16-related conditions. ClinVar contains an entry for this variant (Variation ID: 973450). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX16 protein function. 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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