ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.1841A>G (p.Gln614Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002922484 SCV003263134 uncertain significance Juvenile onset Parkinson disease 19A 2022-03-08 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. This variant is present in population databases (rs770663830, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 614 of the DNAJC6 protein (p.Gln614Arg).
Ambry Genetics RCV002919068 SCV003554523 uncertain significance Inborn genetic diseases 2024-08-10 criteria provided, single submitter clinical testing The c.1670A>G (p.Q557R) alteration is located in exon 12 (coding exon 12) of the DNAJC6 gene. This alteration results from a A to G substitution at nucleotide position 1670, causing the glutamine (Q) at amino acid position 557 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002922484 SCV004049388 uncertain significance Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing

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