ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.2468G>A (p.Arg823His)

gnomAD frequency: 0.00001  dbSNP: rs201984806
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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 RCV001067504 SCV001232570 uncertain significance Juvenile onset Parkinson disease 19A 2022-09-06 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 861071). This variant is also known as c.2297G>A. This missense change has been observed in individual(s) with neurodevelopmental disorder (PMID: 28191889). This variant is present in population databases (rs201984806, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 823 of the DNAJC6 protein (p.Arg823His).
Ambry Genetics RCV002554523 SCV003528783 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.2297G>A (p.R766H) alteration is located in exon 16 (coding exon 16) of the DNAJC6 gene. This alteration results from a G to A substitution at nucleotide position 2297, causing the arginine (R) at amino acid position 766 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001067504 SCV004049397 uncertain significance Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing

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