ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.17243G>A (p.Arg5748Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061857 SCV001226616 uncertain significance Nemaline myopathy 2 2019-01-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 5748 of the NEB protein (p.Arg5748Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs773983252, ExAC 0.006%). This variant has not been reported in the literature in individuals with NEB-related conditions. 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. RCV001061857 SCV001455266 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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