ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.478C>T (p.Leu160Phe)

gnomAD frequency: 0.00001  dbSNP: rs1336576924
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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 RCV001932849 SCV002168135 uncertain significance Peroxisome biogenesis disorder 2022-07-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 160 of the PEX6 protein (p.Leu160Phe). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1400915). 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 RCV004552093 SCV004797188 uncertain significance PEX6-related disorder 2024-02-12 no assertion criteria provided clinical testing The PEX6 c.478C>T variant is predicted to result in the amino acid substitution p.Leu160Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0077% 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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