ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) (rs121909394)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000595591 SCV000707632 likely pathogenic not provided 2017-04-12 criteria provided, single submitter clinical testing
Invitae RCV000595591 SCV001385596 pathogenic not provided 2020-05-14 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 843 of the SLC4A11 protein (p.Leu843Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs121909394, ExAC 0.002%). This variant has been observed to segregate with congenital hereditary endothelial dystrophy in a family and has been reported in combination with another SLC4A11 variant in individuals affected with Harboyan syndrome (PMID: 27057589, 17220209). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1316). This variant has been reported to affect SLC4A11 protein function (PMID: 24916015, 29327391). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001379 SCV000021529 pathogenic Corneal dystrophy-perceptive deafness syndrome 2007-05-01 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.