ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3443C>T (p.Ala1148Val) (rs200637566)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000394485 SCV000417017 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000641363 SCV000763004 uncertain significance Nemaline myopathy 2 2018-07-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1148 of the NEB protein (p.Ala1148Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs200637566, ExAC 0.2%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 331519). 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"; 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.
GeneDx RCV000827155 SCV000968780 likely benign not provided 2018-05-10 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.

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