ClinVar Miner

Submissions for variant NM_145261.4(DNAJC19):c.2T>C (p.Met1Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002612614 SCV003513204 uncertain significance 3-methylglutaconic aciduria type 5 2022-02-06 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the DNAJC19 mRNA. The next in-frame methionine is located at codon 26. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DNAJC19-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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