ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.25160C>T (p.Thr8387Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067764 SCV001232843 uncertain significance Nemaline myopathy 2 2019-08-14 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 8387 of the NEB protein (p.Thr8387Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs372762302, ExAC 0.04%). 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. RCV001067764 SCV001459159 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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