ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.5854A>G (p.Met1952Val) (rs200649387)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000274291 SCV000416983 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000484684 SCV000566127 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NEB gene. The M1952V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M1952V variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved in mammals. However, the M1952V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. 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.

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