ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1094T>C (p.Val365Ala)

gnomAD frequency: 0.00001  dbSNP: rs763967881
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206154 SCV001377449 uncertain significance Dyskeratosis congenita 2019-07-22 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with CTC1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces valine with alanine at codon 365 of the CTC1 protein (p.Val365Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.

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