ClinVar Miner

Submissions for variant NM_003588.3(CUL4B):c.193A>G (p.Ser65Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693451 SCV000821322 uncertain significance Syndromic X-linked mental retardation, Cabezas type 2018-06-29 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 65 of the CUL4B protein (p.Ser65Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs145134351, ExAC 0.005%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with CUL4B-related disease. 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: "Benign"; Align-GVGD: "Class C0"). 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.

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