Submissions for variant NM_001042492.3(NF1):c.615G>A (p.Lys205=)

dbSNP: rs1135402794

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000497168	SCV001643308	likely benign	Neurofibromatosis, type 1	2020-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356813	SCV002660383	uncertain significance	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2021-10-07	criteria provided, single submitter	clinical testing	The c.615G>A variant (also known as p.K205K) is located in coding exon 6 of the NF1 gene. This variant results from a G to A substitution at nucleotide position 615. This nucleotide substitution does not change the lysine at codon 205. This alteration was identified in an individual from a neurofibromatosis type 1 cohort (Bonatti F et al. Int J Mol Sci, 2017 Sep;18:). This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Medical Genetics, University of Parma	RCV000497168	SCV000588702	uncertain significance	Neurofibromatosis, type 1	2017-02-02	no assertion criteria provided	clinical testing