Submissions for variant NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu)

gnomAD frequency: 0.00007  dbSNP: rs200468391

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001133833	SCV001293546	uncertain significance	Nemaline myopathy 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001133833	SCV001420261	benign	Nemaline myopathy 2	2025-01-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001553418	SCV001774280	likely benign	not provided	2019-12-26	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV004548010	SCV004765131	likely benign	NEB-related disorder	2022-03-21	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).