ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.541C>T (p.Arg181Cys)

gnomAD frequency: 0.00009  dbSNP: rs377003627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001896573 SCV002166127 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs377003627, gnomAD 0.02%). 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. 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 not expected to disrupt CA2 protein function. ClinVar contains an entry for this variant (Variation ID: 1393124). This variant has not been reported in the literature in individuals affected with CA2-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 181 of the CA2 protein (p.Arg181Cys).
Fulgent Genetics, Fulgent Genetics RCV002482730 SCV002786633 uncertain significance Osteopetrosis with renal tubular acidosis 2022-02-24 criteria provided, single submitter clinical testing

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