ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)

gnomAD frequency: 0.23407  dbSNP: rs1800136
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000079007 SCV000110876 benign not specified 2018-01-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000079007 SCV000197443 benign not specified 2013-09-27 criteria provided, single submitter clinical testing Gln1463Gln in exon 27 of CFTR: This variant does not alter an amino acid and is not in a consensus splice sequence. It was identified in 21.6% (1861/8600) of European American and 24.4% (1077/4406) of African American chromosomose from a broad population screened by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu).
PreventionGenetics,PreventionGenetics RCV000079007 SCV000304499 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001095184 SCV000466531 likely benign CFTR-related disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001811359 SCV000602976 benign not provided 2022-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000079007 SCV000729755 benign not specified 2018-02-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000353586 SCV001000412 benign Cystic fibrosis 2021-12-17 criteria provided, single submitter clinical testing
CFTR-France RCV000353586 SCV001169201 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
Ambry Genetics RCV001022402 SCV001184133 benign Inborn genetic diseases 2014-11-19 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genome-Nilou Lab RCV000353586 SCV001748541 benign Cystic fibrosis 2021-07-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000353586 SCV002507317 benign Cystic fibrosis 2019-07-23 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV002256041 SCV002529733 benign Hereditary pancreatitis 2020-02-24 criteria provided, single submitter curation
Genetic Services Laboratory,University of Chicago RCV000079007 SCV000150656 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079007 SCV001740204 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000079007 SCV001929943 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000079007 SCV001965616 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001095184 SCV002075982 benign CFTR-related disorders 2017-03-29 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001095184 SCV002507401 benign CFTR-related disorders 2019-07-23 no assertion criteria provided clinical testing

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