ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)

dbSNP: rs397508709
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000410620 SCV000245911 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000410620 SCV000485595 likely pathogenic Cystic fibrosis 2016-01-14 criteria provided, single submitter clinical testing
Mendelics RCV000410620 SCV000886235 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
CFTR-France RCV001009393 SCV001169246 pathogenic Cystic fibrosis; CFTR-related disorder 2018-01-29 criteria provided, single submitter curation when the variant is in trans with another CF-causing variation, can either result in CF or in a CFTR-RD
Labcorp Genetics (formerly Invitae), Labcorp RCV000410620 SCV002243952 pathogenic Cystic fibrosis 2024-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1435Glyfs*14) in the CFTR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acid(s) of the CFTR protein. This variant is present in population databases (rs397508709, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with CFTR-related conditions (PMID: 11101688, 30548586). This variant is also known as 4428insGA and 4296_4297insGA. ClinVar contains an entry for this variant (Variation ID: 370324). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects CFTR function (PMID: 30444886). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000410620 SCV002574097 likely pathogenic Cystic fibrosis 2022-09-05 criteria provided, single submitter curation This variant was identified in 2 unrelated patients with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1_MOD, PS3_SUP, PM2_SUP, PM3_STR, PP4
Baylor Genetics RCV003470326 SCV004215757 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2022-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833488 SCV002075970 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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