Submissions for variant NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)

gnomAD frequency: 0.00177  dbSNP: rs143602832

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001696980	SCV000618641	likely benign	not provided	2018-05-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000641479	SCV000763120	likely benign	Nemaline myopathy 2	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000641479	SCV001292509	uncertain significance	Nemaline myopathy 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Baylor Genetics	RCV000641479	SCV001527877	uncertain significance	Nemaline myopathy 2	2018-12-29	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics	RCV002527602	SCV003709482	uncertain significance	Inborn genetic diseases	2022-09-06	criteria provided, single submitter	clinical testing	The c.18374A>G (p.N6125S) alteration is located in exon 136 (coding exon 134) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 18374, causing the asparagine (N) at amino acid position 6125 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001696980	SCV003812157	likely benign	not provided	2023-04-18	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000641479	SCV001456463	uncertain significance	Nemaline myopathy 2	2019-11-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553143	SCV004734009	likely benign	NEB-related disorder	2020-06-08	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).