ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.43C>A (p.Leu15Met)

gnomAD frequency: 0.00001  dbSNP: rs746254848
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001361316 SCV001557288 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 15 of the MUSK protein (p.Leu15Met). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and methionine. This variant is present in population databases (rs746254848, ExAC 0.03%). 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.

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