ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter) (rs764019241)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699564 SCV000828280 pathogenic Dyskeratosis congenita 2019-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg396*) in the CTC1 gene. It is expected to result in an absent or disrupted protein product. 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 variant has been observed in the compound heterozygous state in an individual with clinical features of dyskeratosis congenita (Invitae). Loss-of-function variants in CTC1 are known to be pathogenic (PMID: 22267198, 22387016). For these reasons, this variant has been classified as Pathogenic.

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