ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.4243-35del

dbSNP: rs193922527
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000506118 SCV000052192 benign not specified 2021-12-23 criteria provided, single submitter clinical testing Variant summary: CFTR c.4243-35delT is located at a position not widely known to affect splicing. 3/3 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00094 in 249034 control chromosomes in the gnomAD database, including 2 homozygotes. The variant, c.4243-35delT, has been reported in an individual affected with nontuberculous mycobacterial infection (Szymanski_2015, McCormack_2017), however this individual had a co-occurring potentially pathogenic variant (MPEG1 c.1192C>T (p.Gln398Ter)), which could explain the phenotype, thus providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submitters have assessed the variant since 2014: one classified the variant as likely benign and two as benign. Based on the evidence outlined above, the variant was classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506118 SCV000603011 benign not specified 2016-11-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283972 SCV001469504 likely benign not provided 2020-04-10 criteria provided, single submitter clinical testing
Invitae RCV001514615 SCV001722501 benign Cystic fibrosis 2021-12-17 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV002256008 SCV002529728 benign Hereditary pancreatitis 2020-08-10 criteria provided, single submitter curation

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