ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)

gnomAD frequency: 0.67137  dbSNP: rs2288210
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081115 SCV000113023 benign not specified 2013-04-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000081115 SCV000269414 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.18305G) is the minor allele. This allele (G) has been identified in 34% (2760/8198) of European American chromosom es and 38% (1400/3680) of African American chromosomes by the NHLBI Exome Sequen cing Project (; dbSNP rs2288210) and thus meets criteria to be classified as benign.
PreventionGenetics, PreventionGenetics RCV000081115 SCV000307264 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293399 SCV000416906 benign 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 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 RCV000081115 SCV000519535 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 RCV000586280 SCV000697807 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The NEB c.18305G>C (p.Arg6102Thr) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 75124/112008 control chromosomes (24879 homozygotes) at a frequency of 0.6707021, which is approximately 190 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting this variant is likely a benign polymorphism. The variant of interest has been reported in a patient affected with muscular dystrophy for which a spicing variant in CHKB likely can explain the phenoytpe. This variant has also been reported in an acral melanoma sample witout evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
Invitae RCV000293399 SCV001716703 benign Nemaline myopathy 2 2022-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542871 SCV001761264 benign Arthrogryposis multiplex congenita 6 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000293399 SCV001761414 benign Nemaline myopathy 2 2021-07-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081115 SCV000151978 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. RCV000293399 SCV001453281 benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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