ClinVar Miner

Submissions for variant NM_000787.4(DBH):c.342C>A (p.Asp114Glu)

dbSNP: rs77576840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000001821 SCV002135188 uncertain significance Orthostatic hypotension 1 2020-11-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 114 of the DBH protein (p.Asp114Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs77576840, ExAC 0.01%). This variant has been observed in individual(s) with dopamine beta-hydroxylase deficiency (PMID: 11857564). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1751). Experimental studies have shown that this variant affects DBH protein function (PMID: 21209083). 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.
OMIM RCV000001821 SCV000021977 pathogenic Orthostatic hypotension 1 2002-03-01 no assertion criteria provided literature only
GeneReviews RCV000001821 SCV000256550 not provided Orthostatic hypotension 1 no assertion provided literature only Abnormal protein retained in cell, suggesting abnormal trafficking & secretion [Kim et al 2011]

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