ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr) (rs199937246)

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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 RCV000725430 SCV000336883 uncertain significance not provided 2015-11-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316381 SCV000416818 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000362456 SCV000715134 likely benign not specified 2017-08-01 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 RCV000697048 SCV000825638 uncertain significance Nemaline myopathy 2 2018-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 8209 of the NEB protein (p.Ala8209Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs199937246, ExAC 0.08%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 284307). 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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