ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1847C>T (p.Ser616Leu)

gnomAD frequency: 0.00005  dbSNP: rs181652070
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653232 SCV000775108 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 616 of the MUSK protein (p.Ser616Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs181652070, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with MUSK-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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