ClinVar Miner

Submissions for variant NC_000009.11:g.(?_113444934)_(113449568_?)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 RCV003116393 SCV003794838 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-01-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-3 of the MUSK gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with congenital myasthenic syndrome (PMID: 24183479). It has also been observed to segregate with disease in related individuals. This variant disrupts the p.Asn103 amino acid residue in MUSK. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25900532, 32253145). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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