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

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Total submissions: 4

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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
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	2018-05-10	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.
PreventionGenetics	RCV000253795	SCV000307316	likely benign	not specified		criteria provided, single submitter	clinical testing

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