ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1184T>C (p.Met395Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052435 SCV001216645 uncertain significance Dyskeratosis congenita 2019-02-28 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 395 of the CTC1 protein (p.Met395Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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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