ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.649G>A (p.Val217Ile)

gnomAD frequency: 0.00005  dbSNP: rs539558180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054735 SCV001219084 uncertain significance not provided 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 217 of the CA2 protein (p.Val217Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs539558180, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CA2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002489638 SCV002792337 uncertain significance Osteopetrosis with renal tubular acidosis 2022-01-11 criteria provided, single submitter clinical testing

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