ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.397A>T (p.Met133Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820961 SCV000961700 uncertain significance Parkinson disease 19a, juvenile-onset 2018-08-09 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 133 of the DNAJC6 protein (p.Met133Leu). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and leucine. This variant is present in population databases (rs61757223, ExAC 0.05%). This variant has been observed in the heterozygous state in an individual affected with Parkinson's disease (PMID: 26528954). 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"). 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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