Submissions for variant NM_001042492.3(NF1):c.7971-8del

dbSNP: rs564545012

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000589144	SCV000572177	likely benign	not provided	2021-06-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24816255)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000589144	SCV000604455	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589144	SCV000696409	benign	not provided	2017-11-22	criteria provided, single submitter	clinical testing	Variant summary: The NF1 c.7908-8delT variant involves the alteration of a non-conserved nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 112/30766 control chromosomes (2 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.012552 (109/8684). This frequency is about 60 times the estimated maximal expected allele frequency of a pathogenic NF1 variant (0.0002084), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001290824	SCV001478990	benign	Neurofibromatosis, type 1	2020-10-26	criteria provided, single submitter	clinical testing
Invitae	RCV001290824	SCV002469090	benign	Neurofibromatosis, type 1	2024-02-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256319	SCV002528129	benign	Hereditary cancer-predisposing syndrome	2020-08-17	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV001290824	SCV002561341	benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000481255	SCV002774036	benign	not specified	2022-03-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000589144	SCV004009777	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NF1: BP4, BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000589144	SCV001809454	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000481255	SCV001967589	benign	not specified		no assertion criteria provided	clinical testing