ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2126C>G (p.Ser709Ter)

dbSNP: rs1201426650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233953 SCV001406573 pathogenic Dyskeratosis congenita 2022-07-21 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 960429). This variant has not been reported in the literature in individuals affected with CTC1-related conditions. This sequence change creates a premature translational stop signal (p.Ser709*) 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).

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