ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.11077C>T (p.Arg3693Cys) (rs539139958)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531818 SCV000640498 uncertain significance Nemaline myopathy 2 2019-09-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 3693 of the NEB protein (p.Arg3693Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. While this variant is present in population databases (rs539139958), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with an NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 465434). 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, this variant has uncertain impact on NEB function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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