ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4272C>A (p.Tyr1424Ter) (rs1800135)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670985 SCV000795917 likely pathogenic Cystic fibrosis 2017-11-30 criteria provided, single submitter clinical testing
Invitae RCV000670985 SCV001382490 pathogenic Cystic fibrosis 2019-05-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CFTR gene (p.Tyr1424*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 57 amino acids of the CFTR protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CFTR-related conditions. ClinVar contains an entry for this variant (Variation ID: 555210). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant disrupts the C-terminus of the CFTR protein. Other variant(s) that disrupt this region (p.Ser1455*) have been determined to be pathogenic (PMID: 17662673, 23276700, 25304080, 24388274, 27728908). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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