ClinVar Miner

Submissions for variant NM_000787.4(DBH):c.583G>A (p.Val195Met)

gnomAD frequency: 0.00040  dbSNP: rs145059403
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801479 SCV000941256 uncertain significance Orthostatic hypotension 1 2023-08-01 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DBH protein function. ClinVar contains an entry for this variant (Variation ID: 647065). This variant has not been reported in the literature in individuals affected with DBH-related conditions. This variant is present in population databases (rs145059403, gnomAD 0.08%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 195 of the DBH protein (p.Val195Met).
Illumina Laboratory Services, Illumina RCV000801479 SCV001329443 uncertain significance Orthostatic hypotension 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV004028064 SCV004852693 uncertain significance Inborn genetic diseases 2021-07-23 criteria provided, single submitter clinical testing The c.583G>A (p.V195M) alteration is located in exon 3 (coding exon 3) of the DBH gene. This alteration results from a G to A substitution at nucleotide position 583, causing the valine (V) at amino acid position 195 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.