ClinVar Miner

Submissions for variant NC_000009.12:g.(?_110734231)_(110734395_?)del

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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 RCV000530585 SCV000656556 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-01-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6 of the MUSK gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in MUSK are known to be pathogenic (PMID: 8653786, 25612909, 25695962, 25900532). This variant has not been reported in the literature in individuals affected with MUSK-related conditions. For these reasons, this variant has been classified as Pathogenic.

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