ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2061G>A (p.Trp687Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003391577 SCV004110298 likely pathogenic DHTKD1-related disorder 2023-08-08 criteria provided, single submitter clinical testing The DHTKD1 c.2061G>A variant is predicted to result in premature protein termination (p.Trp687*). This variant has been reported in a patient with unknown phenotype (suppl. Table 4 in Niceta et al. 2015. PubMed ID: 25865493). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in DHTKD1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003778262 SCV004666191 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2022-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp687*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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