ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter)

gnomAD frequency: 0.00001  dbSNP: rs952398755
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385981 SCV001586039 pathogenic Dyskeratosis congenita 2020-12-22 criteria provided, single submitter clinical testing Loss-of-function variants in CTC1 are known to be pathogenic (PMID: 22267198, 22387016). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CTC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln585*) in the CTC1 gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity RCV001780351 SCV002019761 pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1 2020-05-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426066 SCV004141943 pathogenic not provided 2022-08-01 criteria provided, single submitter clinical testing CTC1: PVS1, PM2

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