ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1613C>G (p.Thr538Arg)

dbSNP: rs928134595
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001347478 SCV001541743 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 538 of the MUSK protein (p.Thr538Arg). 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1043377). This variant has not been reported in the literature in individuals affected with MUSK-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%).
Revvity Omics, Revvity RCV003132442 SCV003817089 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing

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