ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs368344044
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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 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. This variant has not been reported in the literature in individuals with CTC1-related conditions. This variant is present in population databases (rs368344044, ExAC 0.005%). 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.

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