ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2036G>A (p.Trp679Ter) (rs397508333)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000046525 SCV000221007 likely pathogenic Cystic fibrosis 2015-01-06 criteria provided, single submitter literature only
Johns Hopkins Genomics, Johns Hopkins University RCV000046525 SCV001425428 pathogenic Cystic fibrosis 2020-04-27 criteria provided, single submitter clinical testing This CFTR variant has been previously reported in patients with cystic fibrosis and a single submitter in ClinVar classifies it as likely pathogenic (variation ID: 53429). This nonsense variant results in a premature stop codon in exon 14 (legacy exon 13) likely leading to nonsense-mediated decay and lack of protein production. We consider this variant to be pathogenic.

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