ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.5503C>T (p.Arg1835Trp) (rs199694315)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556645 SCV000640815 uncertain significance Nemaline myopathy 2 2019-11-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1835 of the NEB protein (p.Arg1835Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs199694315, ExAC 0.07%). 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"; 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000556645 SCV000782567 uncertain significance Nemaline myopathy 2 2017-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000556645 SCV001462179 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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