ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu)

gnomAD frequency: 0.00001  dbSNP: rs1557265697
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233511 SCV001406110 uncertain significance Dyskeratosis congenita 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 486 of the DKC1 protein (p.Gly486Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DKC1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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