Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002514129 | SCV003445873 | uncertain significance | Dyskeratosis congenita | 2022-05-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 41 of the DKC1 protein (p.Glu41Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with dyskeratosis congenita (PMID: 10364516). ClinVar contains an entry for this variant (Variation ID: 38940). 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. Experimental studies have shown that this missense change does not substantially affect DKC1 function (PMID: 22117216). 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. |
Gene |
RCV000032191 | SCV000055781 | not provided | Dyskeratosis congenita, X-linked | no assertion provided | literature only | ||
Uni |
RCV000032191 | SCV000090824 | not provided | Dyskeratosis congenita, X-linked | no assertion provided | not provided |