ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly)

gnomAD frequency: 0.00001  dbSNP: rs1487025591
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002434414 SCV001189384 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-10-27 criteria provided, single submitter clinical testing The p.V2627G variant (also known as c.7880T>G), located in coding exon 53 of the NF1 gene, results from a T to G substitution at nucleotide position 7880. The valine at codon 2627 is replaced by glycine, an amino acid with dissimilar 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.
Athena Diagnostics Inc RCV001288254 SCV001475230 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing
GeneDx RCV001288254 SCV002008091 uncertain significance not provided 2021-04-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001862388 SCV002160277 uncertain significance Neurofibromatosis, type 1 2023-08-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 827310). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2627 of the NF1 protein (p.Val2627Gly). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NF1 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.
Genome-Nilou Lab RCV001862388 SCV002561159 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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