ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.691-5C>T

gnomAD frequency: 0.00001  dbSNP: rs1291023159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251309 SCV001426855 uncertain significance not specified 2020-07-14 criteria provided, single submitter clinical testing Variant summary: RAPSN c.691-5C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 80652 control chromosomes (gnomAD v2 exomes dataset). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.691-5C>T in individuals affected with Congenital Myasthenic Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001407053 SCV001609020 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-08-02 criteria provided, single submitter clinical testing

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