ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.575C>T (p.Thr192Ile)

dbSNP: rs369229469
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000723179 SCV002139898 uncertain significance not provided 2021-06-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 591996). This variant has not been reported in the literature in individuals affected with CA2-related conditions. This sequence change replaces threonine with isoleucine at codon 192 of the CA2 protein (p.Thr192Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.
Fulgent Genetics, Fulgent Genetics RCV002485843 SCV002780236 uncertain significance Osteopetrosis with renal tubular acidosis 2021-07-21 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000723179 SCV000854310 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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