ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.2501T>C (p.Leu834Pro)

dbSNP: rs2078086619
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211661 SCV001383211 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2022-08-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MUSK-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 941806). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 834 of the MUSK protein (p.Leu834Pro).

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