ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9352A>T (p.Thr3118Ser) (rs543100735)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245348 SCV000307406 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245348 SCV000532939 likely benign not specified 2017-05-15 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 RCV000700983 SCV000829763 uncertain significance Nemaline myopathy 2 2019-09-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 3118 of the NEB protein (p.Thr3118Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs543100735, ExAC 0.03%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 257840). 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.
Natera, Inc. RCV000700983 SCV001454963 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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