ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.4469T>C (p.Met1490Thr) (rs554984749)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518810 SCV000614179 uncertain significance not specified 2017-06-13 criteria provided, single submitter clinical testing
Invitae RCV000641379 SCV000763020 uncertain significance Nemaline myopathy 2 2019-05-13 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 1490 of the NEB protein (p.Met1490Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs554984749, 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: "Deleterious";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. RCV000641379 SCV001455501 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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