ClinVar Miner

Submissions for variant NC_000011.9:g.(?_47455479)_(47460424_?)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 RCV004580267 SCV005064270 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-08-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RAPSN protein in which other variant(s) (p.Lys373del) have been determined to be pathogenic (PMID: 16945936, 19620612; Invitae). 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 results in the deletion of exon(s) 8 and part of exon 7 (c.1025_*4047del) of the RAPSN gene. 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.

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