Submissions for variant NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)

gnomAD frequency: 0.00119  dbSNP: rs75789129

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000007617	SCV000074411	benign	Cystic fibrosis	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000174251	SCV000225525	benign	not specified	2014-10-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001009505	SCV000466517	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	RCV000046398	SCV000602989	likely benign	not provided	2023-04-17	criteria provided, single submitter	clinical testing
Counsyl	RCV000007617	SCV000791753	likely benign	Cystic fibrosis	2017-05-23	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000046398	SCV001134120	likely benign	not provided	2019-12-13	criteria provided, single submitter	clinical testing
CFTR-France	RCV001009505	SCV001169600	pathogenic	CFTR-related disorders	2024-01-24	criteria provided, single submitter	curation
Ambry Genetics	RCV000007617	SCV001173099	benign	Cystic fibrosis	2022-12-08	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.
Genome-Nilou Lab	RCV000007617	SCV001822067	likely benign	Cystic fibrosis	2021-07-22	criteria provided, single submitter	clinical testing
Johns Hopkins Genomics, Johns Hopkins University	RCV000007617	SCV001905497	benign	Cystic fibrosis	2021-09-07	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000046398	SCV002540895	uncertain significance	not provided	2023-02-24	criteria provided, single submitter	clinical testing	BS1, BS2
OMIM	RCV000007617	SCV000027818	uncertain significance	Cystic fibrosis	1994-05-15	flagged submission	literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000007617	SCV000052133	benign	Cystic fibrosis	2015-08-14	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001009505	SCV002080639	benign	CFTR-related disorders	2018-03-23	no assertion criteria provided	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000007617	SCV002573992	uncertain significance	Cystic fibrosis	2022-09-05	flagged submission	curation	This variant was identified in 1 patient 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: PM3, BS1, BS2