ClinVar Miner

Submissions for variant NM_002857.4(PEX19):c.181G>A (p.Asp61Asn)

gnomAD frequency: 0.00001  dbSNP: rs1364910260
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000738 SCV002270785 uncertain significance Peroxisome biogenesis disorder 12A (Zellweger) 2023-07-07 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1482146). This variant has not been reported in the literature in individuals affected with PEX19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 61 of the PEX19 protein (p.Asp61Asn).

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