Submissions for variant NM_001271208.2(NEB):c.24201T>G (p.Asn8067Lys)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000810320	SCV000950514	uncertain significance	Nemaline myopathy 2	2018-08-25	criteria provided, single submitter	clinical testing	This sequence change replaces asparagine with lysine at codon 8067 of the NEB protein (p.Asn8067Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs770023115, ExAC 0.05%). This variant has not been reported in the literature in individuals with NEB-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Not Available"; 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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