ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)

dbSNP: rs1060502861
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465116 SCV000550997 likely pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2019-11-28 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 observed to be de novo in one individual affected with familial hypocalciuric hypercalcemia (FHH) (PMID: 17555508) and to segregate with FHH in a family (PMID: 20034274). ClinVar contains an entry for this variant (Variation ID: 410358). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 551 of the CASR protein (p.Arg551Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CASR protein function.

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