ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3136del (p.Cys1046fs) (rs1223080335)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779240 SCV000915795 uncertain significance Dyskeratosis congenita 2017-10-23 criteria provided, single submitter clinical testing The CTC1 c.3136delT (p.Cys1046ValfsTer23) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance, but suspicious for pathogenicity for autosomal recessive dyskeratosis congenita. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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