ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23383A>G (p.Asn7795Asp) (rs201189784)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723733 SCV000113032 uncertain significance not provided 2013-10-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000253795 SCV000307316 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000723733 SCV000619022 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing The N7795D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N7795D variant is observed in 4/6,396 (0.06%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Asparagine are tolerated across species. However, this variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis predicts this variant is probably damaging to the protein structure/function.
Invitae RCV000698333 SCV000826993 uncertain significance Nemaline myopathy 2 2019-11-08 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 7795 of the NEB protein (p.Asn7795Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs201189784, ExAC 0.06%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 95118). 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.
Natera, Inc. RCV000698333 SCV001456468 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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