ClinVar Miner

Submissions for variant NM_145261.4(DNAJC19):c.51del (p.Phe17fs)

dbSNP: rs1715007577
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231277 SCV001403792 pathogenic 3-methylglutaconic aciduria type 5 2022-08-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 958162). This premature translational stop signal has been observed in individual(s) with clinical features of 3-methylglutaconic aciduria type V (PMID: 29625556). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe17Leufs*10) in the DNAJC19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAJC19 are known to be pathogenic (PMID: 16055927, 27928778).

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