ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.2506G>T (p.Ala836Ser)

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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 RCV002829478 SCV003217483 uncertain significance Juvenile onset Parkinson disease 19A 2022-05-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 836 of the DNAJC6 protein (p.Ala836Ser). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. This variant is present in population databases (rs373898827, gnomAD 0.04%).

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