ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr)

dbSNP: rs1555536690
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316624 SCV000666747 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-12-09 criteria provided, single submitter clinical testing The p.H2569Y variant (also known as c.7705C>T), located in coding exon 52 of the NF1 gene, results from a C to T substitution at nucleotide position 7705. The histidine at codon 2569 is replaced by tyrosine, an amino acid with 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.
Invitae RCV001349097 SCV001543424 uncertain significance Neurofibromatosis, type 1 2023-12-08 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 2569 of the NF1 protein (p.His2569Tyr). 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: 481934). 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 not expected to disrupt NF1 protein function with a negative 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 RCV001349097 SCV002561126 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476230 SCV002780488 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-12-23 criteria provided, single submitter clinical testing

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