ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.591del (p.Val198fs)

dbSNP: rs1567613669
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390096 SCV001591714 pathogenic Dyskeratosis congenita 2018-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val198Serfs*33) in the CTC1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CTC1-related disease. 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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