Description
This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 395 of the CASR protein (p.Cys395Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hypercalcemia (PMID: 10971459, 25320261). ClinVar contains an entry for this variant (Variation ID: 372316). 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. Experimental studies have shown that this missense change affects CASR function (PMID: 19389809, 23077345, 32386559). 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.
# | Sample | Method | Observation |
---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
---|
1 | germline | unknown | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |