ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.3708del (p.Ser1237fs)

dbSNP: rs756746994
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001344563 SCV001538623 uncertain significance not provided 2023-05-08 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1040843). This variant has not been reported in the literature in individuals affected with PCARE-related conditions. This variant is present in population databases (rs756746994, gnomAD 0.003%). This sequence change results in a frameshift in the PCARE gene (p.Ser1237Alafs*77). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 52 amino acid(s) of the PCARE protein and extend the protein by 24 additional amino acid residues.

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.