ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3019del (p.Leu1007fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046110 SCV001209998 pathogenic Dyskeratosis congenita 2019-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1007Cysfs*62) in the CTC1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs199473680, ExAC 0.03%). This variant has been observed in an individual affected with cerebroretinal microangiopathy with calcifications and cysts (PMID: 22387016). The murine equivalent of this variant (p.L1002*) has been reported to affect CTC1 protein function (PMID: 23869908). 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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