ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.281A>G (p.His94Arg)

dbSNP: rs2130558149
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001977965 SCV002265231 uncertain significance not provided 2021-10-10 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. This variant disrupts the p.His94 amino acid residue in CA2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15300855). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 94 of the CA2 protein (p.His94Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.
Fulgent Genetics, Fulgent Genetics RCV002492204 SCV002781167 uncertain significance Osteopetrosis with renal tubular acidosis 2021-07-09 criteria provided, single submitter clinical testing

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