ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)

dbSNP: rs104893704
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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 RCV000549191 SCV000638052 likely pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 881 of the CASR protein (p.Phe881Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of familial hypocalciuric hypercalcemia (PMID: 10843194). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 8340). 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. 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.
OMIM RCV000008842 SCV000029052 pathogenic Familial hypocalciuric hypercalcemia 1 2000-05-01 no assertion criteria provided literature only

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