ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1026G>A (p.Ala342=)

gnomAD frequency: 0.00098  dbSNP: rs200434321
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543050 SCV000656557 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001785661 SCV002028002 uncertain significance not provided 2021-05-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
PreventionGenetics, part of Exact Sciences RCV004543237 SCV004795709 likely benign MUSK-related disorder 2020-07-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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