ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys)

gnomAD frequency: 0.00004  dbSNP: rs758166991
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246068 SCV001419401 likely benign Nemaline myopathy 2 2023-11-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222685 SCV002500802 uncertain significance not specified 2022-03-31 criteria provided, single submitter clinical testing Variant summary: NEB c.23815C>T (p.Arg7939Cys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.8e-05 in 249142 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in NEB causing Nemaline Myopathy 2 (4.8e-05 vs 0.0035), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.23815C>T in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Breakthrough Genomics, Breakthrough Genomics RCV004692326 SCV005187933 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001246068 SCV002084003 uncertain significance Nemaline myopathy 2 2020-02-13 no assertion criteria provided clinical testing

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