ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2062G>C (p.Glu688Gln)

dbSNP: rs1555613784
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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 RCV002319202 SCV001174896 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-10-16 criteria provided, single submitter clinical testing The p.E688Q variant (also known as c.2062G>C), located in coding exon 18 of the NF1 gene, results from a G to C substitution at nucleotide position 2062. The glutamic acid at codon 688 is replaced by glutamine, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001062773 SCV001227593 uncertain significance Neurofibromatosis, type 1 2023-04-04 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) performed at Invitae indicates that this missense variant is expected to disrupt NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 820596). 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 glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 688 of the NF1 protein (p.Glu688Gln).
Genome-Nilou Lab RCV001062773 SCV002561991 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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