ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.22955A>G (p.Asp7652Gly) (rs776739582)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520515 SCV000621973 uncertain significance not provided 2017-11-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NEB gene. The D7652G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D7652G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The D7652G 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 across species; and in silico analysis predicts this variant is probably 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.
Illumina Clinical Services Laboratory,Illumina RCV000299265 SCV000416832 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000706899 SCV000835973 uncertain significance Nemaline myopathy 2 2018-05-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 7652 of the NEB protein (p.Asp7652Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs776739582, ExAC 0.002%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 331415). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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