ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter)

dbSNP: rs397508175
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056344 SCV000087506 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV000056344 SCV001169445 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Ambry Genetics RCV000056344 SCV002651686 pathogenic Cystic fibrosis 2015-04-03 criteria provided, single submitter clinical testing The p.W401* pathogenic mutation (also known as c.1203G>A), located in coding exon 9 of the CFTR gene, results from a G to A substitution at nucleotide position 1203. This changes the amino acid from a tryptophan to a stop codon within coding exon 9. This pathogenic mutation is associated with elevated sweat chloride levels, pancreatic insufficiency (PI), and decreased lung function (Sosnay PR et al. Nat Genet. 2013;45(10):1160-7, Supplementary Table and The Clinical and Functional Translation of CFTR (CFTR2); available at http://cftr2.org. Accessed April 2, 2015). In addition to the clinical data available in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Labcorp Genetics (formerly Invitae), Labcorp RCV000056344 SCV003011447 pathogenic Cystic fibrosis 2022-05-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 53213). This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 7508414, 23974870). This variant is present in population databases (rs397508175, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp401*) 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).
Natera, Inc. RCV001831721 SCV002080556 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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