ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp)

gnomAD frequency: 0.00001  dbSNP: rs1047615316
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001360746 SCV001556680 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-10-13 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RAPSN protein function. ClinVar contains an entry for this variant (Variation ID: 1052540). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 11 of the RAPSN protein (p.Glu11Asp).
Revvity Omics, Revvity RCV003136024 SCV003813719 uncertain significance not provided 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826002 SCV002089179 uncertain significance Congenital myasthenic syndrome 2020-01-31 no assertion criteria provided clinical testing

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