ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1290G>T (p.Trp430Cys)

gnomAD frequency: 0.00001  dbSNP: rs1457151665
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982288 SCV002214788 uncertain significance Peroxisome biogenesis disorder 2021-11-16 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 430 of the PEX6 protein (p.Trp430Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. 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.
Ambry Genetics RCV002561454 SCV003655884 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.1290G>T (p.W430C) alteration is located in exon 5 (coding exon 5) of the PEX6 gene. This alteration results from a G to T substitution at nucleotide position 1290, causing the tryptophan (W) at amino acid position 430 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004552122 SCV004112613 uncertain significance PEX6-related disorder 2023-02-20 criteria provided, single submitter clinical testing The PEX6 c.1290G>T variant is predicted to result in the amino acid substitution p.Trp430Cys. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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