ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.448G>C (p.Val150Leu) (rs146719477)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187332 SCV000240914 uncertain significance not provided 2017-05-17 criteria provided, single submitter clinical testing p.Val150Leu (GTG>CTG): c.448 G>C in exon 4 of the DNAJC5 gene (NM_025219.2). The V150L variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This V150L substitution occurs at a position that is highly conserved across species; however, no missense mutations in nearby residues have been reported. Additionally, the amino acid substitution is conservative, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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