ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.1A>G (p.Met1Val)

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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 RCV002810112 SCV003202080 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-05-22 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.Leu14Pro) have been determined to be pathogenic (PMID: 11791205, 12730725, 19620612). 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 not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the RAPSN mRNA. The next in-frame methionine is located at codon 40.

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