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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