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: 5
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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 c.7717C>T (p.R2573C) alteration is located in exon 52 (coding exon 52) of the NF1 gene. This alteration results from a C to T substitution at nucleotide position 7717, causing the arginine (R) at amino acid position 2573 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001040889 SCV001204480 likely benign Neurofibromatosis, type 1 2024-10-18 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
GeneDx RCV004777741 SCV005388536 uncertain significance not provided 2024-04-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365)

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