ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23530C>T (p.Arg7844Trp) (rs762220487)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641334 SCV000762975 uncertain significance Nemaline myopathy 2 2019-10-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 7844 of the NEB protein (p.Arg7844Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs762220487, ExAC 0.005%). 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 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. RCV000641334 SCV001456464 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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