ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2465T>C (p.Ile822Thr)

dbSNP: rs1553769120
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519795 SCV000619846 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing The I822T variant in the CASR gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge.This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I822T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. We consider it to be a variant of uncertain significance.
Center for Bone Health, The Children's Hospital of Philadelphia RCV001255710 SCV001429692 pathogenic Autosomal dominant hypocalcemia 1 2020-08-03 no assertion criteria provided clinical testing

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