ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.19989A>T (p.Arg6663Ser) (rs755153044)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623207 SCV000742397 uncertain significance Inborn genetic diseases 2017-04-11 criteria provided, single submitter clinical testing
Invitae RCV001244367 SCV001417581 uncertain significance Nemaline myopathy 2 2019-10-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 6663 of the NEB protein (p.Arg6663Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs755153044, ExAC 0.2%). This variant has not been reported in the literature in individuals with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 521697). 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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