ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2819A>C (p.Gln940Pro)

gnomAD frequency: 0.00001  dbSNP: rs1293909274
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001295093 SCV001484004 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-06-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 940 of the CASR protein (p.Gln940Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CASR-related conditions. ClinVar contains an entry for this variant (Variation ID: 999136). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004035630 SCV002747666 uncertain significance Nephrolithiasis/nephrocalcinosis 2024-03-27 criteria provided, single submitter clinical testing The c.2819A>C (p.Q940P) alteration is located in exon 7 (coding exon 6) of the CASR gene. This alteration results from a A to C substitution at nucleotide position 2819, causing the glutamine (Q) at amino acid position 940 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002486114 SCV002777080 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2022-02-16 criteria provided, single submitter clinical testing

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