ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2909_2924dup (rs1263488842)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557902 SCV000625743 likely pathogenic Cystic fibrosis 2017-08-22 criteria provided, single submitter clinical testing This sequence change duplicates 16 nucleotides in exon 18 of the CFTR mRNA (c.2909_2924dup), including part of the canonical splice site. It is expected to either cause a frameshift at codon 976, followed by a premature translational stop signal (p.Phe976Trpfs*4), or to have no protein effect, due to utilization of a newly created alternate splice site. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with CFTR-related disease (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Experimental studies have not been reported for this variant. If the canonical splice site is maintained and the duplicated sequence is translated, then this variant is expected to result in an absent or disrupted CFTR protein product. However, if the canonical splice site is not used, alternative splicing using the newly created splice site would likely have no effect on the translated protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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