ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.322C>T (p.Arg108Ter)

dbSNP: rs372031509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044694 SCV001208502 pathogenic Dyskeratosis congenita 2023-08-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 842299). This premature translational stop signal has been observed in individual(s) with Coats plus syndrome (PMID: 30393977). This variant is present in population databases (rs372031509, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg108*) 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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