ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.2165T>C (p.Val722Ala)

gnomAD frequency: 0.00001  dbSNP: rs1238400476
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064003 SCV001228875 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2023-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 858181). This missense change has been observed in individual(s) with congenital myasthenic syndrome (PMID: 31920924; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 722 of the MUSK protein (p.Val722Ala).

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