Submissions for variant NM_001271208.2(NEB):c.20212G>A (p.Asp6738Asn) (rs201337732)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Clinical Services Laboratory,Illumina	RCV000283326	SCV000416869	uncertain significance	Nemaline Myopathy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000814313	SCV000954716	uncertain significance	Nemaline myopathy 2	2018-07-26	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid with asparagine at codon 6738 of the NEB protein (p.Asp6738Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs201337732, ExAC 0.05%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 331436). 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: "Deleterious"; 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.