ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1048G>A (p.Val350Met)

gnomAD frequency: 0.00001  dbSNP: rs1185636269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559602 SCV000628343 uncertain significance Neurofibromatosis, type 1 2023-05-01 criteria provided, single submitter clinical testing 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. 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: 457512). 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 valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 350 of the NF1 protein (p.Val350Met).
Ambry Genetics RCV002319524 SCV001178102 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-10-03 criteria provided, single submitter clinical testing The p.V350M variant (also known as c.1048G>A), located in coding exon 9 of the NF1 gene, results from a G to A substitution at nucleotide position 1048. The valine at codon 350 is replaced by methionine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000559602 SCV002561860 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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