ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1042del (p.Ser348fs)

dbSNP: rs1290803035
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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 RCV001969869 SCV002218104 pathogenic Dyskeratosis congenita 2024-02-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser348Valfs*19) in the CTC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTC1 are known to be pathogenic (PMID: 22267198, 22387016). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CTC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1442522). For these reasons, this variant has been classified as Pathogenic.

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