ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3368-4A>G

dbSNP: rs748811222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728095 SCV000855628 uncertain significance not provided 2017-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001407781 SCV001609763 likely benign Cystic fibrosis 2022-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001407781 SCV002612952 uncertain significance Cystic fibrosis 2015-08-14 criteria provided, single submitter clinical testing The c.3368-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 21 in the CFTR gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This nucleotide position is not well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to weaken the efficacy of the native acceptor splice site, but is not predicted to have a deleterious effect on this acceptor splice site by ESEfinder; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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