ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.2044A>G (p.Ser682Gly)

gnomAD frequency: 0.00002  dbSNP: rs145175543
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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 RCV001056432 SCV001220875 uncertain significance Juvenile onset Parkinson disease 19A 2021-12-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 682 of the DNAJC6 protein (p.Ser682Gly). This variant is present in population databases (rs145175543, gnomAD 0.03%). 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: 851922). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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