ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.667G>A (p.Glu223Lys)

dbSNP: rs118204110
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000001532 SCV000923439 likely pathogenic Acute intermittent porphyria 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV001209137 SCV001380560 uncertain significance not provided 2019-08-08 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. 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"). This variant has been observed in an individual affected with porphyria (PMID: 8270254). ClinVar contains an entry for this variant (Variation ID: 1467). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 223 of the HMBS protein (p.Glu223Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
OMIM RCV000001532 SCV000021687 pathogenic Acute intermittent porphyria 1994-01-01 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.