Submissions for variant NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)

gnomAD frequency: 0.00026  dbSNP: rs370053963

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724952	SCV000332697	uncertain significance	not provided	2015-06-23	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000314743	SCV000614160	uncertain significance	not specified	2017-06-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081955	SCV000640484	benign	Nemaline myopathy 2	2025-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001081955	SCV001294684	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000314743	SCV002103620	uncertain significance	not specified	2022-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002519098	SCV003724732	uncertain significance	Inborn genetic diseases	2022-06-10	criteria provided, single submitter	clinical testing	The c.9612G>A (p.M3204I) alteration is located in exon 67 (coding exon 65) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 9612, causing the methionine (M) at amino acid position 3204 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000724952	SCV004154145	uncertain significance	not provided	2023-02-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001081955	SCV001461937	uncertain significance	Nemaline myopathy 2	2020-01-17	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000724952	SCV001800587	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724952	SCV001974205	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547657	SCV004750160	likely benign	NEB-related disorder	2022-11-07	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).