ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2386-1G>A

gnomAD frequency: 0.00001  dbSNP: rs199861310
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203903 SCV001375085 likely pathogenic Dyskeratosis congenita 2023-10-30 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the CTC1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CTC1 are known to be pathogenic (PMID: 22267198, 22387016). This variant is present in population databases (rs199861310, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with CTC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 935334). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Centogene AG - the Rare Disease Company RCV001809993 SCV002059743 likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1 2021-04-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001203903 SCV002531281 likely pathogenic Dyskeratosis congenita 2021-10-15 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001809993 SCV002807516 likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1 2021-11-11 criteria provided, single submitter clinical testing

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