ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.899C>A (p.Thr300Asn)

dbSNP: rs1554749322
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653234 SCV000775110 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 300 of the MUSK protein (p.Thr300Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MUSK-related conditions. ClinVar contains an entry for this variant (Variation ID: 542750). 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 with a negative predictive value of 80%. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002261160 SCV002541012 uncertain significance not provided 2021-11-12 criteria provided, single submitter clinical testing

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