ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9181A>T (p.Met3061Leu) (rs143473183)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523543 SCV000618640 uncertain significance not specified 2017-06-30 criteria provided, single submitter clinical testing Another variant of uncertain significance has been identified in the NEB gene. The M3061L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M3061L variant is observed in 45/9802 (0.5%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M3061L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001079382 SCV000763130 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712397 SCV000842878 uncertain significance not provided 2018-07-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001079382 SCV001454965 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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