ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.869+8G>T (rs773933167)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780131 SCV000917175 uncertain significance not specified 2018-02-19 criteria provided, single submitter clinical testing Variant summary: CFTR c.869+8G>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 245716 control chromosomes. This frequency is not higher than expected for a pathogenic variant in CFTR causing Cystic Fibrosis (1.2e-05 vs ND), allowing no conclusion about variant significance. The c.869+8G>T variant has been reported in the literature in compound heterozygosity with the pathogenic variant p.G542X in one hyper-trypsinogenemic infant who had no Cystic Fibrosis manifestations (Prach 2013). This report does not provide unequivocal conclusions about association of the variant with Cystic Fibrosis. 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 uncertain significance.
Invitae RCV001272233 SCV001597039 likely benign Cystic fibrosis 2020-08-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272233 SCV001454035 uncertain significance Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing

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