Submissions for variant NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)

gnomAD frequency: 0.00002  dbSNP: rs199474739

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226490	SCV000284417	benign	Neurofibromatosis, type 1	2023-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316213	SCV000670324	uncertain significance	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2022-11-22	criteria provided, single submitter	clinical testing	The c.2617C>T (p.R873C) alteration is located in exon 21 (coding exon 21) of the NF1 gene. This alteration results from a C to T substitution at nucleotide position 2617, causing the arginine (R) at amino acid position 873 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mendelics	RCV000226490	SCV001140352	uncertain significance	Neurofibromatosis, type 1	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000059177	SCV002006250	uncertain significance	not provided	2024-11-15	criteria provided, single submitter	clinical testing	Observed in at least two individuals with clinical histories consistent with Neurofibromatosis type 1; however, both of these individuals also harbored pathogenic NF1 variants (PMID: 15060124, 19076627); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15060124, 24803665, 15994866, 22090377, 19076627, 15863657, 25486365, 2121369)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000059177	SCV002009300	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
UniProtKB/Swiss-Prot	RCV000059177	SCV000090706	not provided	not provided		no assertion provided	not provided