ClinVar Miner

Submissions for variant NM_000787.4(DBH):c.1646G>T (p.Arg549Leu)

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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 RCV003080070 SCV003480784 uncertain significance Orthostatic hypotension 1 2021-12-27 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 549 of the DBH protein (p.Arg549Leu). This variant is present in population databases (rs150202872, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DBH-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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