ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.869+3A>T (rs1554380828)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665947 SCV000790161 likely pathogenic Cystic fibrosis 2017-03-08 criteria provided, single submitter clinical testing
Invitae RCV000665947 SCV001580426 pathogenic Cystic fibrosis 2020-10-13 criteria provided, single submitter clinical testing This sequence change falls in intron 7 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). This variant has been observed in individual(s) with congenital bilateral absence of vas deferens (CBAVD) (PMID: 30811104) or cystic fibrosis (CF) (PMID: 16931591, 15744829). This variant is also known as 1001+3A>T in the literature. ClinVar contains an entry for this variant (Variation ID: 550999). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). This variant has been observed to affect splicing, resulting in the in-frame skipping of exon 7 (PMID: 15744829). For these reasons, this variant has been classified as Pathogenic.

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