ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val) (rs144915847)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187331 SCV000240913 uncertain significance not provided 2014-12-16 criteria provided, single submitter clinical testing p.Ala140Val (GCG>GTG): c.419 C>T in exon 4 of the DNAJC5 gene (NM_025219.2). The A140V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The A140V variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved through mammals. 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).
Invitae RCV000187331 SCV000629001 likely benign not provided 2018-12-04 criteria provided, single submitter clinical testing

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