ClinVar Miner

Submissions for variant NM_000787.4(DBH):c.301G>A (p.Val101Met)

gnomAD frequency: 0.00005  dbSNP: rs267606760
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000201816 SCV003503527 uncertain significance Orthostatic hypotension 1 2021-12-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 101 of the DBH protein (p.Val101Met). This variant is present in population databases (rs267606760, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with DBH-related conditions. ClinVar contains an entry for this variant (Variation ID: 217761). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneReviews RCV000201816 SCV000256549 not provided Orthostatic hypotension 1 no assertion provided literature only Identified in USA [Kim et al 2002, Erez et al 2010, Phillips et al 2013]

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