ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln)

dbSNP: rs201947904
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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 RCV001054429 SCV001218742 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 333 of the RAPSN protein (p.Glu333Gln). This variant is present in population databases (rs201947904, gnomAD 0.07%). 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: 850289). 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) performed at Invitae indicates that this missense variant is not expected to disrupt RAPSN protein function. 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.
Revvity Omics, Revvity RCV003132181 SCV003813724 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275243 SCV001460214 uncertain significance Congenital myasthenic syndrome 2020-09-16 no assertion criteria provided clinical testing

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