ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.1113C>T (p.Gly371=)

gnomAD frequency: 0.00001  dbSNP: rs150503333
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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 RCV002537796 SCV003309378 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-07-21 criteria provided, single submitter clinical testing This sequence change affects codon 371 of the RAPSN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RAPSN protein. This variant is present in population databases (rs150503333, gnomAD 0.006%). 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: 990460). 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. RCV001278479 SCV001465493 uncertain significance Congenital myasthenic syndrome 2020-04-13 no assertion criteria provided clinical testing

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