ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3637G>A (p.Val1213Ile) (rs202124287)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723937 SCV000229714 uncertain significance not provided 2014-06-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347874 SCV000417013 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000177783 SCV000531056 likely benign not specified 2016-08-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000554467 SCV000640783 uncertain significance Nemaline myopathy 2 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1213 of the NEB protein (p.Val1213Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs202124287, ExAC 0.1%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 196898). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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