ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)

dbSNP: rs1554381605
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004256 SCV001163132 likely pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Ambry Genetics RCV000583796 SCV002614657 pathogenic Cystic fibrosis 2017-10-02 criteria provided, single submitter clinical testing The p.K381* pathogenic mutation (also known as c.1141A>T), located in coding exon 9 of the CFTR gene, results from an A to T substitution at nucleotide position 1141. This changes the amino acid from a lysine to a stop codon within coding exon 9. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583796 SCV000692320 pathogenic Cystic fibrosis 2015-10-29 no assertion criteria provided clinical testing

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