ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.2212G>A (p.Asp738Asn)

gnomAD frequency: 0.00004  dbSNP: rs140156759
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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 RCV001893576 SCV002176774 uncertain significance Juvenile onset Parkinson disease 19A 2022-10-10 criteria provided, single submitter clinical testing This variant is present in population databases (rs140156759, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 738 of the DNAJC6 protein (p.Asp738Asn). This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1398584).

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