ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe)

dbSNP: rs1562914212
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000757866 SCV000886379 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290003 SCV002580977 uncertain significance Hereditary pancreatitis 2022-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000757866 SCV005559880 uncertain significance Cystic fibrosis 2024-07-11 criteria provided, single submitter clinical testing The p.L1040F variant (also known as c.3118C>T), located in coding exon 19 of the CFTR gene, results from a C to T substitution at nucleotide position 3118. The leucine at codon 1040 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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