Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001215451 | SCV001387197 | pathogenic | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 | 2023-08-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant alters RAPSN gene expression (PMID: 12651869). ClinVar contains an entry for this variant (Variation ID: 264677). This variant is also known as -27C>G. This variant has been observed in individual(s) with congenital myasthenic syndrome (PMID: 12651869, 14729848, 19620612). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the RAPSN gene. It does not change the encoded amino acid sequence of the RAPSN protein. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000235022 | SCV004099524 | likely pathogenic | Congenital myasthenic syndrome | 2023-09-05 | criteria provided, single submitter | clinical testing | Variant summary: RAPSN c.-199C>G (also known as -27C>G) is located in the untranslated mRNA region upstream of the initiation codon. The variant was absent in 31408 control chromosomes (gnomAD). c.-199C>G has been reported as a biallelic genotype in the literature in individuals affected with Congenital Myasthenic Syndrome (Ohno_2003, Milone_2009). These data indicate that the variant may be associated with disease. A luciferase reporter assay showed that the variant reduces transcriptional activity (Ohno_2003). The following publications have been ascertained in the context of this evaluation (PMID: 12651869, 19620612). One ClinVar submitter has assessed the variant since 2014, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Baylor Genetics | RCV003469194 | SCV004206093 | pathogenic | Fetal akinesia deformation sequence 2 | 2023-08-24 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000235022 | SCV000292403 | not provided | Congenital myasthenic syndrome | no assertion provided | literature only |