ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3711T>G (p.Asp1237Glu)

dbSNP: rs876659917
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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 RCV000214709 SCV000276870 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-30 criteria provided, single submitter clinical testing The p.D1237E variant (also known as c.3711T>G), located in coding exon 28 of the NF1 gene, results from a T to G substitution at nucleotide position 3711. The aspartic acid at codon 1237 is replaced by glutamic acid, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 55000alleles tested) in our clinical cohort.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 p.D1237Eremains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001373563 SCV001570283 uncertain significance Neurofibromatosis, type 1 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1237 of the NF1 protein (p.Asp1237Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 232680). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV001373563 SCV002560323 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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