ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr)

dbSNP: rs1244383237
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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 RCV000793750 SCV000933119 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2018-12-03 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CASR-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tyrosine at codon 997 of the CASR protein (p.Ser997Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine.
GenomeConnect - Invitae Patient Insights Network RCV003483725 SCV004228515 not provided Bartter disease type 3; Familial hypoparathyroidism; Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Autosomal dominant hypocalcemia 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-03-2018 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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