ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1163C>T (p.Ser388Leu)

gnomAD frequency: 0.00001  dbSNP: rs377282860
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034984 SCV001198289 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-09-19 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 834324). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is present in population databases (rs377282860, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 388 of the CASR protein (p.Ser388Leu).
Ambry Genetics RCV002320226 SCV002627248 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2021-09-26 criteria provided, single submitter clinical testing The p.S388L variant (also known as c.1163C>T), located in coding exon 3 of the CASR gene, results from a C to T substitution at nucleotide position 1163. The serine at codon 388 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002489537 SCV002800825 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2022-04-20 criteria provided, single submitter clinical testing

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