ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)

gnomAD frequency: 0.00006  dbSNP: rs375845215
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507700 SCV000601099 uncertain significance not specified 2016-09-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000507700 SCV000919175 likely benign not specified 2021-01-11 criteria provided, single submitter clinical testing
Invitae RCV000863415 SCV001004068 likely benign Cystic fibrosis 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000863415 SCV001181734 likely benign Cystic fibrosis 2015-12-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Illumina Laboratory Services, Illumina RCV001163785 SCV001325858 uncertain significance CFTR-related disorder 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
PreventionGenetics, part of Exact Sciences RCV001163785 SCV004737065 likely benign CFTR-related disorder 2019-08-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000863415 SCV001455999 uncertain significance Cystic fibrosis 2018-04-27 no assertion criteria provided clinical testing

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