ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.196T>C (p.Phe66Leu)

dbSNP: rs757539708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001369745 SCV001566192 uncertain significance Peroxisome biogenesis disorder 2B 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 66 of the PEX5 protein (p.Phe66Leu). This variant is present in population databases (rs757539708, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1060328). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
PreventionGenetics, part of Exact Sciences RCV004749670 SCV005352534 uncertain significance PEX5-related disorder 2024-07-05 no assertion criteria provided clinical testing The PEX5 c.196T>C variant is predicted to result in the amino acid substitution p.Phe66Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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