ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)

dbSNP: rs199473679
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475703 SCV000541111 pathogenic Dyskeratosis congenita 2023-12-11 criteria provided, single submitter clinical testing This variant, c.2954_2956del, results in the deletion of 1 amino acid(s) of the CTC1 protein (p.Cys985del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs199473679, gnomAD 0.009%). This variant has been observed in individuals with Coats plus, dyskeratosis congenita, and cerebroretinal microangiopathy with calcifications and cysts (PMID: 22267198, 22387016, 22532422, 22899577). ClinVar contains an entry for this variant (Variation ID: 40250). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects CTC1 function (PMID: 22267198, 22532422, 23869908, 24115768). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000503047 SCV000594258 pathogenic Coats plus syndrome 2018-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001797048 SCV002038826 pathogenic not provided 2021-12-18 criteria provided, single submitter clinical testing Published functional studies demonstrate p.C985del damages normal protein function and affects genome instability (Wang et al., 2018); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 1amino acid in a non-repeat region; This variant is associated with the following publications: (PMID: 25197929, 22899577, 33010065, 24115768, 32499435, 23869908, 22387016, 22532422, 29146883, 30891747, 30523342, 33034244, 32543263, 28104920, 29481669, 22267198)
OMIM RCV000033248 SCV000057104 pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1 2012-08-01 no assertion criteria provided literature only

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