ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)

gnomAD frequency: 0.00001  dbSNP: rs397508154
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV001009436 SCV001169452 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Invitae RCV001009436 SCV001517556 uncertain significance Cystic fibrosis 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 361 of the CFTR protein (p.Trp361Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with cystic fibrosis (PMID: 7518409, 10923036, 11788090, 17331079). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001009436 SCV001822036 uncertain significance Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001009436 SCV002574044 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: PS1, PM2_SUP, PM3, PP3, PP4
Natera, Inc. RCV001831717 SCV002078191 uncertain significance CFTR-related disorders 2021-06-02 no assertion criteria provided clinical testing

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