ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.19219G>A (p.Glu6407Lys) (rs144539316)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520425 SCV000618289 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 E6407K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E6407K variant is observed in 26/7824 (0.3%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E6407K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. 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 RCV000641399 SCV000763040 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing

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