ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2578C>G (p.Leu860Val)

dbSNP: rs1597715404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319243 SCV001176903 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-10-24 criteria provided, single submitter clinical testing The p.L860V variant (also known as c.2578C>G), located in coding exon 21 of the NF1 gene, results from a C to G substitution at nucleotide position 2578. The leucine at codon 860 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not 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.
Invitae RCV003598023 SCV004407610 uncertain significance Neurofibromatosis, type 1 2023-05-04 criteria provided, single submitter clinical testing 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) has been performed at Invitae 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 NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 821514). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 860 of the NF1 protein (p.Leu860Val). 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.

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