Submissions for variant NM_025099.6(CTC1):c.2993C>T (p.Pro998Leu)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001053558	SCV001217826	uncertain significance	Dyskeratosis congenita	2019-03-22	criteria provided, single submitter	clinical testing	This sequence change replaces proline with leucine at codon 998 of the CTC1 protein (p.Pro998Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs368344044, ExAC 0.005%). 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 are either unavailable or 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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