ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)

dbSNP: rs397508510
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046801 SCV000245886 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Mendelics RCV000046801 SCV000886218 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781263 SCV000919173 pathogenic not specified 2017-09-11 criteria provided, single submitter clinical testing Variant summary: The CFTR c.3160C>G (p.His1054Asp) variant located in the ABC transporter type , transmembrane domain involves the alteration of a conserved nucleotide and 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 112668 control chromosomes. A functional study, Van Goor_2013, found the variant to have a severe defect in CFTR processing and to have a small but significant response to ivacaftor. Multiple publications have cited the variant in affected compound heterozygote individuals. In addition, a reputable database classifies the variant as "pathogenic." Therefore, the variant of interest has been classified as "pathogenic."
CFTR-France RCV000046801 SCV001169282 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV000046801 SCV001589629 pathogenic Cystic fibrosis 2022-08-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 1054 of the CFTR protein (p.His1054Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with cystic fibrosis (PMID: 7505690, 16931591, 20538955, 23951356; Invitae). ClinVar contains an entry for this variant (Variation ID: 53667). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). Experimental studies have shown that this missense change affects CFTR function (PMID: 8662892, 23891399).
Baylor Genetics RCV004566876 SCV005057449 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2024-01-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826659 SCV002083605 pathogenic CFTR-related disorder 2019-04-04 no assertion criteria provided clinical testing

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