ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)

gnomAD frequency: 0.00002  dbSNP: rs759962661
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803611 SCV000943491 likely benign Nemaline myopathy 2 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001766668 SCV001999535 uncertain significance not provided 2019-12-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002534757 SCV003625961 uncertain significance Inborn genetic diseases 2022-06-29 criteria provided, single submitter clinical testing The c.18989G>A (p.R6330H) alteration is located in exon 142 (coding exon 140) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 18989, causing the arginine (R) at amino acid position 6330 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001766668 SCV003809632 uncertain significance not provided 2023-10-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330959 SCV004039266 uncertain significance not specified 2023-08-03 criteria provided, single submitter clinical testing Variant summary: NEB c.24662G>A (p.Arg8221His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.1e-05 in 239754 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.24662G>A in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. Five ClinVar submitters have assessed the variant since 2014: four classified the variant as uncertain significance and one as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV000803611 SCV002083958 uncertain significance Nemaline myopathy 2 2020-08-07 no assertion criteria provided clinical testing

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