ClinVar Miner

Submissions for variant NM_145261.4(DNAJC19):c.259C>T (p.Leu87Phe)

dbSNP: rs1714880831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001327863 SCV001518956 uncertain significance 3-methylglutaconic aciduria type 5 2022-02-03 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1027288). This variant has not been reported in the literature in individuals affected with DNAJC19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 87 of the DNAJC19 protein (p.Leu87Phe).

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