ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.35T>C (p.Phe12Ser)

dbSNP: rs61752139
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673775 SCV000799018 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2018-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531343 SCV003439352 uncertain significance Peroxisome biogenesis disorder 2022-02-21 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 12 of the PEX6 protein (p.Phe12Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Zellweger spectrum disorder (PMID: 15542397). ClinVar contains an entry for this variant (Variation ID: 557609). 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: "Deleterious"; 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.
Baylor Genetics RCV003472161 SCV004201594 likely pathogenic Heimler syndrome 2 2024-03-19 criteria provided, single submitter clinical testing

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