ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1511G>A (p.Ser504Asn)

gnomAD frequency: 0.00001  dbSNP: rs770340288
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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) RCV000391575 SCV000346012 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518168 SCV002996959 uncertain significance Peroxisome biogenesis disorder 2022-02-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 291292). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. This variant is present in population databases (rs770340288, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 504 of the PEX6 protein (p.Ser504Asn). 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.

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