ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)

gnomAD frequency: 0.00001  dbSNP: rs372787215
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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 RCV002315758 SCV000663203 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-09-03 criteria provided, single submitter clinical testing The p.R2573C variant (also known as c.7717C>T), located in coding exon 52 of the NF1 gene, results from a C to T substitution at nucleotide position 7717. The arginine at codon 2573 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well 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 RCV001040889 SCV001204480 likely benign Neurofibromatosis, type 1 2023-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001040889 SCV002561129 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491121 SCV002790684 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-01-07 criteria provided, single submitter clinical testing

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