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
Labcorp Genetics (formerly Invitae), Labcorp RCV001240548 SCV001413505 uncertain significance Cystic fibrosis 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 24 of the CFTR protein (p.Leu24Val). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CFTR-related conditions. ClinVar contains an entry for this variant (Variation ID: 965976). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CFTR protein function. 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 disorder 2018-06-11 no assertion criteria provided clinical testing

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