ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3271C>T (p.His1091Tyr)

dbSNP: rs1358175667
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702847 SCV000831718 uncertain significance Dyskeratosis congenita 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 1091 of the CTC1 protein (p.His1091Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CTC1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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