ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.2443G>T (p.Ala815Ser)

gnomAD frequency: 0.00004  dbSNP: rs369274494
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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 RCV002012539 SCV002279524 uncertain significance Juvenile onset Parkinson disease 19A 2021-09-17 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. This variant is present in population databases (rs369274494, ExAC 0.02%). This sequence change replaces alanine with serine at codon 815 of the DNAJC6 protein (p.Ala815Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine.

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