ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.449C>T (p.Ser150Phe)

dbSNP: rs1559956735
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
Athena Diagnostics Inc RCV000711042 SCV000841362 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319098 SCV001184334 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2018-12-30 criteria provided, single submitter clinical testing The p.S150F variant (also known as c.449C>T), located in coding exon 2 of the CASR gene, results from a C to T substitution at nucleotide position 449. The serine at codon 150 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003768099 SCV004592714 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-04-06 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 585624). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 150 of the CASR protein (p.Ser150Phe). 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.

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.