ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.992T>C (p.Met331Thr)

gnomAD frequency: 0.00009  dbSNP: rs760136045
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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 RCV001921222 SCV002189400 uncertain significance Juvenile onset Parkinson disease 19A 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 331 of the DNAJC6 protein (p.Met331Thr). This variant is present in population databases (rs760136045, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. 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.

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