ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.1817A>C (p.His606Pro)

dbSNP: rs199937139
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761661 SCV000891834 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002533876 SCV002949054 uncertain significance Juvenile onset Parkinson disease 19A 2023-11-06 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 606 of the DNAJC6 protein (p.His606Pro). This variant is present in population databases (rs199937139, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 623688). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Genome-Nilou Lab RCV002533876 SCV004049386 uncertain significance Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000761661 SCV005186741 uncertain significance not provided criteria provided, single submitter not provided

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