ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7675A>G (p.Met2559Val)

gnomAD frequency: 0.00001  dbSNP: rs779373258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315779 SCV000663230 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-09-28 criteria provided, single submitter clinical testing The p.M2538V variant (also known as c.7612A>G), located in coding exon 51 of the NF1 gene, results from an A to G substitution at nucleotide position 7612. The methionine at codon 2538 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001303046 SCV001492279 uncertain significance Neurofibromatosis, type 1 2023-03-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NF1-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2538 of the NF1 protein (p.Met2538Val). This variant is present in population databases (rs779373258, gnomAD 0.0009%). ClinVar contains an entry for this variant (Variation ID: 480190). 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 not 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 RCV001303046 SCV002561118 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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