ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.5374A>G (p.Lys1792Glu) (rs541641039)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557997 SCV000640812 uncertain significance Nemaline myopathy 2 2018-09-21 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 1792 of the NEB protein (p.Lys1792Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs541641039, ExAC 0.09%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 465613). 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: "Probably Damaging"; 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.
Ambry Genetics RCV000622837 SCV000741637 uncertain significance Inborn genetic diseases 2016-08-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000557997 SCV001453494 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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