ClinVar Miner

Submissions for variant NM_003588.3(CUL4B):c.348G>T (p.Gln116His) (rs755306871)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532515 SCV000640021 uncertain significance Syndromic X-linked mental retardation, Cabezas type 2017-02-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 116 of the CUL4B protein (p.Gln116His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present as hemizygous in an individual in the population databases (rs755306871, ExAC 0.01%) but has not been reported in the literature in individuals with a CUL4B-related disease. 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, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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