ClinVar Miner

Submissions for variant NM_000787.4(DBH):c.715A>T (p.Lys239Ter)

dbSNP: rs766640976
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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 RCV002785699 SCV003021535 pathogenic Orthostatic hypotension 1 2022-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys239*) in the DBH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DBH are known to be pathogenic (PMID: 7715704, 15060114). This variant is present in population databases (rs766640976, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with DBH-related conditions. For these reasons, this variant has been classified as Pathogenic.

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