ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2350A>G (p.Asn784Asp)

dbSNP: rs929525105
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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) RCV000727985 SCV000855502 uncertain significance not provided 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV001862134 SCV002299586 uncertain significance Peroxisome biogenesis disorder 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 784 of the PEX6 protein (p.Asn784Asp). 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. ClinVar contains an entry for this variant (Variation ID: 593053). 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 C15"). 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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