ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg)

dbSNP: rs760903542
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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 RCV003528939 SCV004260056 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2023-10-09 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the DHTKD1 mRNA. The next in-frame methionine is located at codon 108. This variant is present in population databases (rs760903542, gnomAD 0.003%). Disruption of the initiator codon has been observed in individual(s) with 2-aminoadipic 2-oxoadipic aciduria (PMID: 23141293). 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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