ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.719A>G (p.Asp240Gly)

dbSNP: rs1592219658
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791929 SCV000931198 pathogenic not provided 2023-09-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects HMBS function (PMID: 30740734). 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) performed at Invitae indicates that this missense variant is expected to disrupt HMBS protein function. ClinVar contains an entry for this variant (Variation ID: 639190). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 240 of the HMBS protein (p.Asp240Gly). This missense change has been observed in individual(s) with acute intermittent porphyria (PMID: 30740734; Invitae; personalcommunicationMt.Sinai). This variant is not present in population databases (gnomAD no frequency).

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.