Submissions for variant NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)

gnomAD frequency: 0.07467  dbSNP: rs1800130

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079002	SCV000110871	benign	not specified	2015-07-16	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000079002	SCV000205166	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Pro1290Pro in exon 23 of CFTR: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 15.1% (665/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1800130).
PreventionGenetics, part of Exact Sciences	RCV000079002	SCV000304494	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095148	SCV000466524	benign	CFTR-related disorders	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705726	SCV000602977	benign	not provided	2022-06-20	criteria provided, single submitter	clinical testing
Invitae	RCV000289147	SCV001000585	benign	Cystic fibrosis	2024-02-01	criteria provided, single submitter	clinical testing
CFTR-France	RCV000289147	SCV001169174	benign	Cystic fibrosis	2018-01-29	criteria provided, single submitter	curation	the variant does not result in CFTR-RD neither
Ambry Genetics	RCV000289147	SCV001182931	benign	Cystic fibrosis	2014-11-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV001705726	SCV001891963	benign	not provided	2018-06-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10572229, 24631642, 25033378, 23503723, 10601093, 22483971, 26436105, 27488005, 27022295, 28456595)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000289147	SCV002507396	benign	Cystic fibrosis	2021-08-31	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000289147	SCV002574085	benign	Cystic fibrosis	2022-09-05	criteria provided, single submitter	curation	This variant was identified in 3 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: BA1, BS1
Genetic Services Laboratory, University of Chicago	RCV000079002	SCV000150652	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.
GeneReviews	RCV000119036	SCV000153742	not provided	Hereditary pancreatitis		no assertion provided	literature only
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV000289147	SCV001338833	benign	Cystic fibrosis	2020-01-30	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001095148	SCV002075895	benign	CFTR-related disorders	2017-03-29	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001095148	SCV002507480	benign	CFTR-related disorders	2021-08-31	no assertion criteria provided	clinical testing