ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1898T>C (p.Phe633Ser)

dbSNP: rs1161007370
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001296061 SCV001485016 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2020-12-07 criteria provided, single submitter clinical testing 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. 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 expected to disrupt MUSK protein function. This variant has not been reported in the literature in individuals with MUSK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 633 of the MUSK protein (p.Phe633Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine.

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