ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3691del (p.Ser1231fs)

dbSNP: rs77035409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000029526 SCV000245891 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Labcorp Genetics (formerly Invitae), Labcorp RCV000029526 SCV002230540 pathogenic Cystic fibrosis 2022-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1231Profs*4) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 1710600, 27081564, 30548586). This variant is also known as CF3821delT. ClinVar contains an entry for this variant (Variation ID: 35871). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473144 SCV004213572 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029526 SCV000052178 likely pathogenic Cystic fibrosis 2015-10-02 no assertion criteria provided clinical testing

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