ClinVar Miner

Submissions for variant NC_000011.10:g.(?_47447802)_(47449175_?)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 RCV001032726 SCV001196033 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2019-11-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-2 of the RAPSN gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the RAPSN gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with RAPSN-related conditions. Loss-of-function variants in RAPSN are known to be pathogenic (PMID: 17686188). For these reasons, this variant has been classified as Pathogenic.

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