ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9542A>C (p.Asp3181Ala) (rs767042929)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692260 SCV000820074 uncertain significance Nemaline myopathy 2 2018-02-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 3181 of the NEB protein (p.Asp3181Ala). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is present in population databases (rs767042929, ExAC 0.009%). This variant has not been reported in the literature in individuals with NEB-related disease. 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: "Tolerated"; 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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