Submissions for variant NM_001164508.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer)

dbSNP: rs2099386637

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001248376	SCV001421858	pathogenic	Nemaline myopathy 2	2020-10-10	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). This variant has not been reported in the literature in individuals with NEB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1088*) in the NEB gene. It is expected to result in an absent or disrupted protein product.
GenomeConnect - Invitae Patient Insights Network	RCV001248376	SCV004228614	not provided	Nemaline myopathy 2		no assertion provided	phenotyping only	Variant interpreted as Pathogenic and reported on 10-23-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
PreventionGenetics, part of Exact Sciences	RCV004548102	SCV004800228	likely pathogenic	NEB-related disorder	2024-03-01	no assertion criteria provided	clinical testing	The NEB c.3264_3265delCA variant is predicted to result in premature protein termination (p.Tyr1088*). To our knowledge, this variant has not been reported in the literature. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in NEB are expected to be pathogenic. This variant is interpreted as likely pathogenic.