ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.79_128del (p.Glu27fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003234325 SCV003930592 uncertain significance not provided 2022-12-05 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003528451 SCV004309421 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu27Profs*10) 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 (rs779758367, gnomAD 0.02%). 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: 2504734). For these reasons, this variant has been classified as Pathogenic.

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