ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.10609G>A (p.Ala3537Thr) (rs556492694)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243811 SCV000307188 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000805885 SCV000945860 uncertain significance Nemaline myopathy 2 2019-04-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 3537 of the NEB protein (p.Ala3537Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs556492694, ExAC 0.08%). This variant has not been reported in the literature in individuals with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 257719). 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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