Submissions for variant NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs)

dbSNP: rs1135402907

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000497251	SCV000753519	pathogenic	Neurofibromatosis, type 1	2022-05-28	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 431693). This sequence change creates a premature translational stop signal (p.Arg2562Aspfs*12) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (NF1) (PMID: 15146469). This variant is also known as c.7682_7683delAG. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV001171793	SCV001334648	pathogenic	not provided	2020-03-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000497251	SCV001479029	pathogenic	Neurofibromatosis, type 1	2020-10-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000497251	SCV002560587	pathogenic	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Medical Genetics, University of Parma	RCV000497251	SCV000588840	pathogenic	Neurofibromatosis, type 1	2017-02-02	no assertion criteria provided	clinical testing