ClinVar Miner

Submissions for variant NM_145261.4(DNAJC19):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00002  dbSNP: rs372756221
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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 RCV000642307 SCV000763976 uncertain significance 3-methylglutaconic aciduria type 5 2021-08-27 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 present in population databases (rs372756221, ExAC 0.03%). 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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