ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup)

dbSNP: rs2074946020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001309963 SCV001499479 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-05-20 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: 1012068). 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 variant, c.2804_2836dup, results in the insertion of 11 amino acid(s) of the CASR protein (p.Pro935_Gln945dup), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV004034223 SCV002747438 uncertain significance Nephrolithiasis/nephrocalcinosis 2022-11-17 criteria provided, single submitter clinical testing The c.2804_2836dup33 variant (also known as p.P935_Q945dup), located in coding exon 6 of the CASR gene, results from an in-frame duplication of 33 nucleotides at nucleotide positions 2804 to 2836. This results in the in-frame insertion of 11 amino acids (PLALTQQEQQQ) between codons 935 and 945. This variant was detected in a proband with nephrolithiasis, hyperparathyroidism, parathyroid hyperplasia, and vitamin D insufficiency. Several relatives were also reported to have normocalcemic hyperparathyroidism and vitamin D defiency; however, only the proband and his father carried this variant (García-Castaño A. Eur. J. Endocrinol. 2019 Jan;180(1):59-70). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002499592 SCV002806991 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2022-02-26 criteria provided, single submitter clinical testing

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