ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.1829G>A (p.Gly610Glu) (rs139125293)

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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 RCV000624381 SCV000741636 uncertain significance Inborn genetic diseases 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV000812080 SCV000952382 uncertain significance Nemaline myopathy 2 2019-05-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 610 of the NEB protein (p.Gly610Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs139125293, ExAC 0.05%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 521170). 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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