ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.2086T>C (p.Trp696Arg) (rs1462099424)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549185 SCV000654694 uncertain significance Parkinson disease 19a, juvenile-onset 2017-05-04 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 696 of the DNAJC6 protein (p.Trp696Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DNAJC6-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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