ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1246C>T (p.Gln416Ter)

gnomAD frequency: 0.00006  dbSNP: rs200722918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658560 SCV000780336 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Invitae RCV001861702 SCV002217768 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2023-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln416*) in the DHTKD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DHTKD1 are known to be pathogenic (PMID: 23141293, 25860818). This variant is present in population databases (rs200722918, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 546638). For these reasons, this variant has been classified as Pathogenic.

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