ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4212C>G (p.Ile1404Met)

dbSNP: rs2145592533
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001932418 SCV002130419 uncertain significance not provided 2021-07-13 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. 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 C0"). This variant has not been reported in the literature in individuals affected with SETBP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with methionine at codon 1404 of the SETBP1 protein (p.Ile1404Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine.

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