ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3717+5G>A (rs193922520)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000029530 SCV000924226 pathogenic Cystic fibrosis 2017-12-08 reviewed by expert panel research
Integrated Genetics/Laboratory Corporation of America RCV000029530 SCV000052182 likely pathogenic Cystic fibrosis 2018-09-11 criteria provided, single submitter clinical testing Variant summary: CFTR c.3717+5G>A alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Two predict the variant abolishes a 5' splicing donor site. One predict the variant weakens a 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.1e-06 in 241064 control chromosomes. c.3717+5G>A has been reported in the literature in multiple individuals affected with Cystic Fibrosis (Kilinc_2002, Bonyadi_2017). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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