ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071962 SCV001237301 uncertain significance Dyskeratosis congenita 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 777 of the CTC1 protein (p.Glu777Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CTC1-related conditions. 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 and their clinical significance is uncertain. 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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