Submissions for variant NM_001042492.3(NF1):c.60+2del

dbSNP: rs1131691101

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000492476	SCV000581301	likely pathogenic	Hereditary cancer-predisposing syndrome	2016-01-30	criteria provided, single submitter	clinical testing	The c.60+2delT intronic variant, located in intron 1 of the NF1 gene, results from a deletion of one nucleotide at the +2 position downstream of coding exon1 of the NF1 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5599 samples (11198 alleles) with coverage at this position. This nucleotide position is highly conserved in available vertebrate species. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 110000alleles tested) in our clinical cohort.Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice donor site are typically deleterious in nature (ACMGRecommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007.Genet Med.2008;10:294). As such, the c.60+2delT variant is classified as likely pathogenic.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659955	SCV000781860	likely pathogenic	Neurofibromatosis, type 1	2016-11-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000659955	SCV002561546	likely pathogenic	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing