ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)

dbSNP: rs397508306
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000577043 SCV001981593 pathogenic Cystic fibrosis 2020-01-10 reviewed by expert panel research
CFTR-France RCV001009373 SCV001169226 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000577043 SCV001737621 likely pathogenic Cystic fibrosis 2021-05-20 criteria provided, single submitter clinical testing Variant summary: CFTR c.1801A>T (p.Ile601Phe) results in a non-conservative amino acid change located in the ABC transporter-like of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.3e-06 in 233316 control chromosomes. c.1801A>T has been reported in the literature in individuals affected with CFTR-Related Diseases (CFTR-RD), including at least one patient with pancreatic sufficient CF and one patient with CBAVD (Vankeerberghen_1998, Steiner_2011). The variant has also been reported in 5 patients in the CFTR2 database, and was reported in the CFTR-France database in 2 patients with CF and 4 patients with CFTR-RD. At least one functional study reported that the variant gave rise to a protein that was aberrantly processed, resulting in the absence of sufficient CFTR protein at the cell surface (Vankeerberghen_1998). The CFTR2 and CFTR-France databases both report the variant as pathogenic for CF and/or CFTR-RD. However, the working group of the French CF society cited the variant in recently published guidelines as "a mutation of unproved or uncertain clinical relevance" (Sermet-Gaudelus_2017). Based on the evidence outlined above, the variant was classified as likely pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577043 SCV000678964 not provided Cystic fibrosis no assertion provided literature only

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