ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3743C>G (p.Ser1248Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003062138 SCV003440218 pathogenic Cystic fibrosis 2022-11-30 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 26708955). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1248*) in the CFTR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922).
Baylor Genetics RCV003475487 SCV004213416 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2024-02-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003062138 SCV005040428 pathogenic Cystic fibrosis 2024-03-04 criteria provided, single submitter clinical testing Variant summary: CFTR c.3743C>G (p.Ser1248X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 250990 control chromosomes. c.3743C>G has been reported in the literature in individuals affected with Cystic Fibrosis (Schrijver_2016). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 26708955). ClinVar contains an entry for this variant (Variation ID: 2136607). Based on the evidence outlined above, the variant was classified as pathogenic.

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