ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr)

dbSNP: rs2047328405
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 RCV001247448 SCV001420871 likely pathogenic not provided 2019-11-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been reported to affect SLC4A1 protein function (PMID: 28045035, 22518001). This variant has been observed in individual(s) with autosomal dominant renal tubular acidosis or nephrocalcinosis (PMID: 22518001, Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 909 of the SLC4A1 protein (p.Met909Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine.
Fulgent Genetics, Fulgent Genetics RCV002499429 SCV002811530 likely pathogenic BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to 2021-09-20 criteria provided, single submitter clinical testing

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.