ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5348A>G (p.Tyr1783Cys)

dbSNP: rs1597831963
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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 RCV002319413 SCV001185795 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-03-06 criteria provided, single submitter clinical testing The p.Y1762C variant (also known as c.5285A>G), located in coding exon 37 of the NF1 gene, results from an A to G substitution at nucleotide position 5285. The tyrosine at codon 1762 is replaced by cysteine, an amino acid with highly 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 RCV001042528 SCV001206211 uncertain significance Neurofibromatosis, type 1 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1762 of the NF1 protein (p.Tyr1762Cys). 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: 825618). 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 with a positive predictive value of 95%. 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 RCV001042528 SCV002560537 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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