ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1673T>A (p.Leu558Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310012 SCV002604262 likely pathogenic Cystic fibrosis 2022-02-25 criteria provided, single submitter clinical testing NM_000492.3(CFTR):c.1673T>A(L558*) is expected to be pathogenic in the context of cystic fibrosis. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CFTR, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV004572231 SCV005057416 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2024-03-19 criteria provided, single submitter clinical testing

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