Submissions for variant NM_025099.6(CTC1):c.391G>A (p.Gly131Arg) (rs200137992)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000820755	SCV000961482	uncertain significance	Dyskeratosis congenita	2019-12-18	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with arginine at codon 131 of the CTC1 protein (p.Gly131Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs200137992, ExAC 0.2%). This variant has not been reported in the literature in individuals with CTC1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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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