ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.53+9G>T

dbSNP: rs745414764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001434935 SCV001637753 likely benign Cystic fibrosis 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001434935 SCV002647197 uncertain significance Cystic fibrosis 2014-06-27 criteria provided, single submitter clinical testing The c.53+9G>T intronic variant results from a G to T substitution 9 nucleotides after coding exon 1 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 well conserved in available vertebrate species on limited alignment. In addition, t is the reference nucleotide in opossum. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this donor splice site; 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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