ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.303_316del (p.Asn102fs)

dbSNP: rs2151531785
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001951187 SCV002238655 pathogenic Dyskeratosis congenita 2022-09-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1456511). This variant has not been reported in the literature in individuals affected with CTC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn102Alafs*32) 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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