ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1081del (p.Trp361fs)

gnomAD frequency: 0.00001  dbSNP: rs387906361
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007555 SCV000071466 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV001009522 SCV001169617 pathogenic Cystic fibrosis; CFTR-related disorder 2018-01-29 criteria provided, single submitter curation the variant causes a phenotype but regarding our data, we can't formally attribute it to CF, CFTR-RD or both
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000007555 SCV001437251 pathogenic Cystic fibrosis 2020-09-21 criteria provided, single submitter clinical testing Variant summary: CFTR c.1081delT (p.Trp361GlyfsX8) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251020 control chromosomes (gnomAD). c.1081delT has been reported in the literature in multiple individuals affected with Cystic Fibrosis (Iannuzzi_1991, Sosnay_2013). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters, including one expert panel (CFTR2), (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000007555 SCV001588875 pathogenic Cystic fibrosis 2021-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This variant has been observed in several individuals affected with cystic fibrosis (PMID: 1990834, 23974870). This variant is also known as 1213delT in the literature. ClinVar contains an entry for this variant (Variation ID: 7135). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp361Glyfs*8) in the CFTR gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003466826 SCV004215781 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2024-02-19 criteria provided, single submitter clinical testing
OMIM RCV000007555 SCV000027756 pathogenic Cystic fibrosis 1991-02-01 no assertion criteria provided literature only
Natera, Inc. RCV001831529 SCV002078190 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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