Submissions for variant NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)

gnomAD frequency: 0.00014  dbSNP: rs35194393

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000326103	SCV000344359	uncertain significance	not provided	2016-08-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001130401	SCV001289977	uncertain significance	Nemaline myopathy 2	2018-01-12	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	RCV001130401	SCV001525412	uncertain significance	Nemaline myopathy 2	2019-11-04	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Pars Genome Lab	RCV001130401	SCV001736793	uncertain significance	Nemaline myopathy 2	2021-05-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001578688	SCV001805967	uncertain significance	Arthrogryposis multiplex congenita 6	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001130401	SCV001805968	uncertain significance	Nemaline myopathy 2	2021-07-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001130401	SCV003249552	benign	Nemaline myopathy 2	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002522010	SCV003706178	uncertain significance	Inborn genetic diseases	2021-06-21	criteria provided, single submitter	clinical testing	The c.3211A>C (p.I1071L) alteration is located in exon 32 (coding exon 30) of the NEB gene. This alteration results from a A to C substitution at nucleotide position 3211, causing the isoleucine (I) at amino acid position 1071 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV000326103	SCV003812213	uncertain significance	not provided	2022-09-02	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000326103	SCV005187958	uncertain significance	not provided		criteria provided, single submitter	not provided
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001130401	SCV005373923	uncertain significance	Nemaline myopathy 2	2024-09-22	criteria provided, single submitter	clinical testing