ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7334T>G (p.Val2445Gly)

dbSNP: rs1567623931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756434 SCV000884252 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing The NF1 c.7334T>G; p.Val2445Gly variant, to our knowledge, is not reported in the medical literature, in gene-specific databases, or in the ClinVar database. However, ARUP laboratories has detected this variant in an individual with a clinical diagnosis of neurofibromatosis type 1 who also carried a pathogenic variant. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The valine at this position is highly conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is deleterious. Considering available information, there insufficient evidence to classify this variant with certainty.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855873 SCV002303071 uncertain significance Neurofibromatosis, type 1 2021-02-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 618251). This sequence change replaces valine with glycine at codon 2424 of the NF1 protein (p.Val2424Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. This variant is not present in population databases (ExAC no frequency). 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 RCV001855873 SCV002561058 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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