ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.647G>A (p.Gly216Asp)

dbSNP: rs118204116
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851552 SCV002270784 pathogenic not provided 2022-09-01 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 216 of the HMBS protein (p.Gly216Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of acute intermittent porphyria (PMID: 9225970, 12372055, 31044425; Invitae). ClinVar contains an entry for this variant (Variation ID: 1478). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
OMIM RCV000001543 SCV000021698 pathogenic Acute intermittent porphyria 1997-07-01 no assertion criteria provided literature only

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.