Submissions for variant NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)

gnomAD frequency: 0.64120  dbSNP: rs7575451

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081126	SCV000113034	benign	not specified	2013-11-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000081126	SCV000269422	benign	not specified	2014-11-26	criteria provided, single submitter	clinical testing	This is a RefSeq error. The reference base (c.24538G) is the minor allele. This allele (G) has been identified in 36% (2917/8198) of European American chromosom es and 40% (1501/3704) of African American chromosomes by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs7575451) and thus meets criteria to be classified as benign.
PreventionGenetics, part of Exact Sciences	RCV000081126	SCV000307323	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000266979	SCV000416820	benign	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000081126	SCV000519545	benign	not specified	2016-01-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590547	SCV000697818	benign	not provided	2017-02-27	criteria provided, single submitter	clinical testing	Variant summary: The NEB c.24538G>C (p.Ala8180Pro) variant involves the alteration of a conserved nucleotide, which 3/4 in silico tools (query not functioning for SNPs&Go) predict a "benign" outcome. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 0.6499357 (74779/115056 (24235 homozygotes)). Therefore, suggesting that the C allele is the major allele observed in the general population. In addition, multiple clinical diagnostic laboratories classify the variant as Benign. Therefore, the variant of interest has been classified as Benign.
Athena Diagnostics	RCV000590547	SCV001144719	benign	not provided	2019-02-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000266979	SCV001729454	benign	Nemaline myopathy 2	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543063	SCV001761560	benign	Arthrogryposis multiplex congenita 6	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000266979	SCV001761561	benign	Nemaline myopathy 2	2021-07-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000590547	SCV005245914	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000081126	SCV000152003	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc.	RCV000266979	SCV001459165	benign	Nemaline myopathy 2	2020-09-16	no assertion criteria provided	clinical testing