ClinVar Miner

Submissions for variant NM_177972.3(TUB):c.1333G>A (p.Gly445Arg)

dbSNP: rs370305563
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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 RCV001945075 SCV002178891 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 500 of the TUB protein (p.Gly500Arg). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1413648). This variant has not been reported in the literature in individuals affected with TUB-related conditions. This variant is present in population databases (rs370305563, gnomAD 0.007%).

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