ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.70T>G (p.Leu24Val)

gnomAD frequency: 0.00001  dbSNP: rs1056986309
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240548 SCV001413505 uncertain significance Cystic fibrosis 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 24 of the CFTR protein (p.Leu24Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CFTR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001240548 SCV002666865 uncertain significance Cystic fibrosis 2021-09-09 criteria provided, single submitter clinical testing The p.L24V variant (also known as c.70T>G), located in coding exon 2 of the CFTR gene, results from a T to G substitution at nucleotide position 70. The leucine at codon 24 is replaced by valine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002480799 SCV002774542 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480798 SCV002792180 uncertain significance Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2021-07-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828955 SCV002080066 uncertain significance CFTR-related disorders 2018-06-11 no assertion criteria provided clinical testing

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