ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.53+3G>C

dbSNP: rs1797978937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210058 SCV001381523 uncertain significance Cystic fibrosis 2019-10-02 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the CFTR gene. It does not directly change the encoded amino acid sequence of the CFTR protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CFTR-related conditions.
Natera, Inc. RCV001828682 SCV002080062 uncertain significance CFTR-related disorders 2021-05-25 no assertion criteria provided clinical testing

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