ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2677A>G (p.Asn893Asp)

gnomAD frequency: 0.00001  dbSNP: rs1392921552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538456 SCV000638054 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-09-03 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 463934). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 893 of the CASR protein (p.Asn893Asp).
Ambry Genetics RCV004023954 SCV002743895 uncertain significance Nephrolithiasis/nephrocalcinosis 2022-01-16 criteria provided, single submitter clinical testing The p.N893D variant (also known as c.2677A>G), located in coding exon 6 of the CASR gene, results from an A to G substitution at nucleotide position 2677. The asparagine at codon 893 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002483413 SCV002781118 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2021-07-06 criteria provided, single submitter clinical testing

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