ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics,Johns Hopkins University RCV001250526 SCV001425331 likely pathogenic Cystic fibrosis 2019-05-22 criteria provided, single submitter clinical testing This CFTR variant is absent from large population datasets and has not been reported in ClinVar nor the literature, to our knowledge. This nonsense variant results in a premature stop codon in exon 9 (legacy exon 8) likely leading to nonsense-mediated decay and lack of protein production. CFTR c.1150G>T has been identified in multiple patients who also carry a second damaging CFTR variant, however, the phenotypic information provided is discrepant. This variant is considered likely pathogenic.

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