ClinVar Miner

Submissions for variant NM_145261.4(DNAJC19):c.130-1G>C (rs137854888)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000002028 SCV000940260 pathogenic 3-methylglutaconic aciduria type V 2018-11-30 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the DNAJC19 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with dilated cardiomyopathy with ataxia syndrome in many families (PMID: 16055927). ClinVar contains an entry for this variant (Variation ID: 1951). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DNAJC19 are known to be pathogenic (PMID: 6055927, 27928778). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002028 SCV000022186 pathogenic 3-methylglutaconic aciduria type V 2012-10-05 no assertion criteria provided literature only

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