ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.308A>G (p.Asn103Ser)

gnomAD frequency: 0.00001  dbSNP: rs551423795
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute RCV000202607 SCV000257558 likely pathogenic Congenital myasthenic syndrome 9 2015-12-15 criteria provided, single submitter research
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677721 SCV000803875 likely pathogenic Fetal akinesia deformation sequence 1 2017-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853262 SCV002226421 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 103 of the MUSK protein (p.Asn103Ser). This variant is present in population databases (rs551423795, gnomAD 0.01%). This missense change has been observed in individual(s) with congenital myasthenic syndrome (PMID: 25900532, 32253145). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 218372). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003129807 SCV003817077 uncertain significance not provided 2019-10-12 flagged submission clinical testing

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