ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr) (rs1567604032)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698304 SCV000826963 uncertain significance Dyskeratosis congenita 2018-06-11 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 710 of the CTC1 protein (p.Ala710Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine 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 disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
Godley laboratory, The University of Chicago RCV001172448 SCV001250900 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2020-05-18 criteria provided, single submitter clinical testing

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