ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.690+4G>A

gnomAD frequency: 0.00005  dbSNP: rs201803329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044087 SCV001207862 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-02-24 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the RAPSN gene. It does not directly change the encoded amino acid sequence of the RAPSN protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201803329, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. ClinVar contains an entry for this variant (Variation ID: 841787). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001274413 SCV001458540 uncertain significance Congenital myasthenic syndrome 2020-01-24 no assertion criteria provided clinical testing

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