Submissions for variant NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)

gnomAD frequency: 0.00008  dbSNP: rs182207224

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000821137	SCV000961881	benign	Nemaline myopathy 2	2024-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000821137	SCV001288196	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.
GeneDx	RCV001550148	SCV001770435	likely benign	not provided	2018-10-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002537494	SCV003707086	uncertain significance	Inborn genetic diseases	2021-12-03	criteria provided, single submitter	clinical testing	The c.355A>G (p.T119A) alteration is located in exon 6 (coding exon 4) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 355, causing the threonine (T) at amino acid position 119 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001550148	SCV003810182	uncertain significance	not provided	2022-09-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001550148	SCV004011207	uncertain significance	not provided	2023-04-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001550148	SCV004224970	uncertain significance	not provided	2023-05-15	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000821137	SCV001458308	uncertain significance	Nemaline myopathy 2	2020-01-17	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001550148	SCV001799464	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001550148	SCV001965663	uncertain significance	not provided		no assertion criteria provided	clinical testing