ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3272A>G (p.His1091Arg)

dbSNP: rs1597373397
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799384 SCV000939044 uncertain significance Dyskeratosis congenita 2018-10-29 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CTC1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 1091 of the CTC1 protein (p.His1091Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.

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