ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2503G>A (p.Ala835Thr)

dbSNP: rs2074939751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001049283 SCV001213328 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2021-06-06 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. This variant has been reported to affect CASR protein function (PMID: 11889203, 15591042). This variant has been observed in a family affected with autosomal dominant hypocalcemia (PMID: 11889203). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 835 of the CASR protein (p.Ala835Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.
Fulgent Genetics, Fulgent Genetics RCV002497391 SCV002807000 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2022-03-04 criteria provided, single submitter clinical testing

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