ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1114_1115delinsAA (p.Ala372Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002589697 SCV002940799 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2022-02-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 372 of the MUSK protein (p.Ala372Asn). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with MUSK-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.

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