ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2329A>C (p.Ile777Leu)

dbSNP: rs2074936383
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205834 SCV001377111 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2019-05-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 777 of the CASR protein (p.Ile777Leu). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and leucine. This variant has been observed in an individual with clinical features of familial hypocalciuric hypercalcemia (PMID: 27666534). This variant has been reported to have conflicting or insufficient data to determine the effect on CASR protein function (PMID: 27666534). 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. This variant is not present in population databases (ExAC no frequency).

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