ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.2023G>A (p.Val675Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003069377 SCV003467416 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2022-05-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 675 of the MUSK protein (p.Val675Met). This variant is present in population databases (rs573900610, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MUSK-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MUSK protein function. 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.
Revvity Omics, Revvity RCV003134626 SCV003817082 uncertain significance not provided 2019-03-13 criteria provided, single submitter clinical testing

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