ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1670G>A (p.Gly557Glu)

dbSNP: rs1576875835
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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 RCV001208343 SCV001379724 likely pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2019-11-13 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been reported to affect CASR protein function (PMID: 27434672). This variant has been observed to segregate with familial hypocalciuric hypercalcemia in a family (PMID: 11762699). Also, the variant has been identified in several individuals with clinical features of familial hypocalciuric hypercalcemia (PMID: 16491288). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 557 of the CASR protein (p.Gly557Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001030007 SCV001192810 pathogenic Familial hypocalciuric hypercalcemia 1 2019-11-08 no assertion criteria provided clinical testing

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