ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.10258C>T (p.Arg3420Cys) (rs201596787)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549031 SCV000640482 uncertain significance Nemaline myopathy 2 2019-05-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 3420 of the NEB protein (p.Arg3420Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs201596787, ExAC 0.08%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 465428). 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.

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