ClinVar Miner

Submissions for variant NC_000011.9:g.(?_47459516)_(47464376_?)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 RCV004580266 SCV005064269 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-11-12 criteria provided, single submitter clinical testing This variant disrupts a region of the RAPSN protein in which other variant(s) (p.Gly291Asp) have been determined to be pathogenic (PMID: 12796535). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 3-8 of the RAPSN gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. For these reasons, this variant has been classified as Pathogenic.

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