ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.829G>A (p.Ala277Thr)

gnomAD frequency: 0.00045  dbSNP: rs146050826
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001726756 SCV001961117 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001882791 SCV002315332 uncertain significance Juvenile onset Parkinson disease 19A 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 277 of the DNAJC6 protein (p.Ala277Thr). This variant is present in population databases (rs146050826, 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: 1298426). 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 threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001726756 SCV002759075 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001882791 SCV004049375 uncertain significance Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039994 SCV004860148 uncertain significance Inborn genetic diseases 2022-01-28 criteria provided, single submitter clinical testing The c.658G>A (p.A220T) alteration is located in exon 7 (coding exon 7) of the DNAJC6 gene. This alteration results from a G to A substitution at nucleotide position 658, causing the alanine (A) at amino acid position 220 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001726756 SCV005186739 uncertain significance not provided criteria provided, single submitter not provided

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