ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1213del (p.Asp405fs)

dbSNP: rs1444923772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500806 SCV000594260 pathogenic Coats plus syndrome 2016-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524173 SCV003477971 pathogenic Dyskeratosis congenita 2022-09-28 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with cerebroretinal microangiopathy with calcifications and cysts and/or paroxysmal nocturnal haemoglobinuria (PMID: 23220793, 30891747). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 434858). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp405Metfs*58) 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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