ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)

dbSNP: rs397508308
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665515 SCV000789653 uncertain significance Cystic fibrosis 2017-02-16 criteria provided, single submitter clinical testing
CFTR-France RCV001009540 SCV001169635 pathogenic Cystic fibrosis; CFTR-related disorders 2018-03-09 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
Genome-Nilou Lab RCV000665515 SCV001822085 likely pathogenic Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV000665515 SCV002279240 pathogenic Cystic fibrosis 2023-07-25 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of cystic fibrosis (PMID: 26277102). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 604 of the CFTR protein (p.Thr604Ile). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 53395). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CFTR protein function. This variant disrupts the p.Thr604 amino acid residue in CFTR. Other variant(s) that disrupt this residue have been observed in individuals with CFTR-related conditions (PMID: 15858154, 26277102; Invitae), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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