ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys)

gnomAD frequency: 0.00011  dbSNP: rs527250558
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000396324 SCV000339792 uncertain significance not provided 2016-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000641332 SCV000762973 likely benign Nemaline myopathy 2 2024-11-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000641332 SCV000896832 uncertain significance Nemaline myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000396324 SCV001791930 uncertain significance not provided 2023-09-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222474 SCV002500801 uncertain significance not specified 2022-03-31 criteria provided, single submitter clinical testing Variant summary: NEB c.19966C>T (p.Arg6656Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 9.5e-05 in 210040 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in NEB causing Nemaline Myopathy 2 (9.5e-05 vs 0.0035), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.19966C>T in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV000641332 SCV002084106 uncertain significance Nemaline myopathy 2 2020-07-07 no assertion criteria provided clinical testing

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