ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.17677A>G (p.Thr5893Ala) (rs762095177)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519906 SCV000618698 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NEB gene. The T5893A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T5893A variant is observed in 5/66,726 (0.007%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T5893A 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. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000558674 SCV000640603 uncertain significance Nemaline myopathy 2 2016-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000558674 SCV001454701 uncertain significance Nemaline myopathy 2 2020-03-10 no assertion criteria provided clinical testing

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