ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys)

gnomAD frequency: 0.00004  dbSNP: rs769989407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216911 SCV001388731 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 221 of the RAPSN protein (p.Arg221Cys). This variant is present in population databases (rs769989407, gnomAD 0.03%). 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: 946118). 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 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.
Natera, Inc. RCV001833886 SCV002089152 uncertain significance Congenital myasthenic syndrome 2020-08-19 no assertion criteria provided clinical testing

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