ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3874-4A>G

gnomAD frequency: 0.00005  dbSNP: rs201381687
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665032 SCV000789087 uncertain significance Cystic fibrosis 2016-12-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001158875 SCV001320538 uncertain significance CFTR-related disorder 2017-07-15 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000665032 SCV001641318 likely benign Cystic fibrosis 2024-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000665032 SCV002620532 uncertain significance Cystic fibrosis 2023-12-04 criteria provided, single submitter clinical testing The c.3874-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 24 in the CFTR gene. This variant was identified in one male with congenital bilateral absence of the vas deferens with the 5T allele in trans (Cheng H et al. J Assist Reprod Genet, 2022 Mar;39:719-728). This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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