ClinVar Miner

Submissions for variant NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206673 SCV001377993 pathogenic 3-methylglutaconic aciduria type V 2019-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr21*) in the DNAJC19 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs145786060, ExAC 0.02%). This nonsense change has been observed in an individual affected with dilated cardiomyopathy, movement disorder, developmental delay, sensorineural deafness and basal ganglia lesions (PMID: 27928778). Loss-of-function variants in DNAJC19 are known to be pathogenic (PMID: 16055927, 27928778). For these reasons, this variant has been classified as Pathogenic.

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