ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)

dbSNP: rs193302868
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000033128 SCV005395086 pathogenic Cutis laxa, autosomal recessive, type 1B 2024-09-10 criteria provided, single submitter clinical testing Variant summary: EFEMP2 c.1189G>A (p.Ala397Thr) results in a non-conservative amino acid change located in the Fibulin, C-terminal Ig-like domain (IPR055088) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251228 control chromosomes (gnomAD). c.1189G>A has been reported in the literature in multiple individuals affected with Autosomal Recessive Cutis Laxa (e.g. Sulu_2019). These data indicate that the variant is very likely to be associated with disease. ClinVar contains an entry for this variant (Variation ID: 39009). Based on the evidence outlined above, the variant was classified as pathogenic.
GeneReviews RCV000032266 SCV000055901 not provided Cutis laxa, autosomal recessive, type 1A no assertion provided literature only
OMIM RCV000033128 SCV000056909 pathogenic Cutis laxa, autosomal recessive, type 1B 2010-08-01 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.