ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1313T>C (p.Leu438Pro)

gnomAD frequency: 0.00001  dbSNP: rs778025463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178750 SCV000230896 uncertain significance not provided 2016-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852222 SCV002308930 uncertain significance Peroxisome biogenesis disorder 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 438 of the PEX6 protein (p.Leu438Pro). This variant is present in population databases (rs778025463, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of peroxisomal biogenesis disorders (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 197656). 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 disruptive. 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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