ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.143_146del (p.Ser48fs)

dbSNP: rs1564077060
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
Illumina Laboratory Services, Illumina RCV000779563 SCV000916237 uncertain significance Osteopetrosis with renal tubular acidosis 2017-04-28 criteria provided, single submitter clinical testing The CA2 c.143_146delCTGT (p.Ser48PhefsTer9) variant results in a frameshift and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium despite being located in a region of good sequencing coverage. Therefore, it is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for osteopetrosis with renal tubular acidosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV001869146 SCV002242192 pathogenic not provided 2021-05-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of carbonic anhydrase 2 deficiency (PMID: 9143915, 31061753). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser48Phefs*9) in the CA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CA2 are known to be pathogenic (PMID: 15300855).

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.