ClinVar Miner

Submissions for variant NM_006431.3(CCT2):c.1246T>G (p.Leu416Val)

dbSNP: rs2135859537
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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 RCV002007644 SCV002259269 uncertain significance not provided 2021-10-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 416 of the CCT2 protein (p.Leu416Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 tolerated. This variant has not been reported in the literature in individuals affected with CCT2-related conditions. This variant is not present in population databases (ExAC no frequency).

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