ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1673C>G (p.Pro558Arg)

dbSNP: rs369745938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557353 SCV000656564 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2022-11-29 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 not expected to disrupt MUSK protein function. ClinVar contains an entry for this variant (Variation ID: 476133). This variant has not been reported in the literature in individuals affected with MUSK-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 558 of the MUSK protein (p.Pro558Arg).
Revvity Omics, Revvity RCV003133356 SCV003817085 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing

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