Submissions for variant NM_001271208.2(NEB):c.13204A>G (p.Ser4402Gly) (rs1475846023)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000525566	SCV000640552	uncertain significance	Nemaline myopathy 2	2016-10-03	criteria provided, single submitter	clinical testing	This variant occurs in a region of NEB (Exons 82-105) consisting of three highly homologous 8-exon repeat units (exons 82-89, exons 90-97, exons 98-105). Sequence variants in this region can be detected, but this assay cannot determine which of the three repeat units is affected, and zygosity is often ambiguous. All variants in this region are reported relative to the exon 82-89 repeat. This variant is absent in the population databases and has not been reported in the literature in individuals with NEB-related disease. However, it occurs in the triplicated region of NEB and the frequency data is considered unreliable. In summary, this variant is a novel missense change that is not predicted to affect protein function. Missense variants in the NEB gene are typically not pathogenic, and there is no indication that this variant causes disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc.	RCV000525566	SCV001460860	uncertain significance	Nemaline myopathy 2	2019-11-11	no assertion criteria provided	clinical testing