ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2993del (p.Leu998fs)

dbSNP: rs1057516415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412107 SCV000485628 likely pathogenic Cystic fibrosis 2016-01-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000412107 SCV002511526 pathogenic Cystic fibrosis 2024-07-05 criteria provided, single submitter clinical testing Variant summary: CFTR c.2993delT (p.Leu998TyrfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251082 control chromosomes. To our knowledge, no occurrence of c.2993delT in individuals affected with Cystic Fibrosis and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 370341). Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV003475944 SCV004213455 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-07-22 criteria provided, single submitter clinical testing

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