Submissions for variant NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys)

dbSNP: rs1060500243

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000471733	SCV000541966	likely benign	Neurofibromatosis, type 1	2025-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311767	SCV000662985	uncertain significance	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2022-03-26	criteria provided, single submitter	clinical testing	The c.3875A>G (p.Y1292C) alteration is located in exon 29 (coding exon 29) of the NF1 gene. This alteration results from a A to G substitution at nucleotide position 3875, causing the tyrosine (Y) at amino acid position 1292 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Sema4, Sema4	RCV000573306	SCV002527538	uncertain significance	Hereditary cancer-predisposing syndrome	2022-02-16	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV000471733	SCV002560337	uncertain significance	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
GeneDx	RCV002284392	SCV002574225	likely pathogenic	not provided	2022-05-05	criteria provided, single submitter	clinical testing	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: 25486365, 22807134, 31717729)
Baylor Genetics	RCV004567946	SCV005052214	uncertain significance	Juvenile myelomonocytic leukemia	2024-02-23	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000471733	SCV005442090	likely pathogenic	Neurofibromatosis, type 1	2024-12-19	criteria provided, single submitter	clinical testing