ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5989T>C (p.Trp1997Arg)

dbSNP: rs1597840306
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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 RCV002346219 SCV001186752 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-11-29 criteria provided, single submitter clinical testing The p.W1976R variant (also known as c.5926T>C), located in coding exon 39 of the NF1 gene, results from a T to C substitution at nucleotide position 5926. The tryptophan at codon 1976 is replaced by arginine, an amino acid with dissimilar 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 RCV001209316 SCV001380745 uncertain significance Neurofibromatosis, type 1 2023-03-16 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: 826061). 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 tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 1976 of the NF1 protein (p.Trp1976Arg).
Genome-Nilou Lab RCV001209316 SCV002560925 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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