ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3874-2A>G (rs1554396384)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589248 SCV000696996 likely pathogenic Cystic fibrosis 2017-03-30 criteria provided, single submitter clinical testing Variant summary: The c.3874-2A>G in CFTR gene is a splice-site variant that alters a highly conserved nucleotide. 5/5 in silico tools via Alamut predict the loss of canonical acceptor sequence, although these predictions are yet to be confirmed by the functional studies. The variant is absent from control datasets of ExAC and gnomAD (0/114018 and 0/241528 chrs tested, respectively). Lastly, the variant has not, to our knowledge, been reported in affected individuals via published reports or cited by reputable databases/diagnostic centers. Taken together, the variant was classified as Likely Pathogenic.

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