ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.265C>G (p.Leu89Val)

gnomAD frequency: 0.00003  dbSNP: rs543224303
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243891 SCV001417078 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 89 of the RAPSN protein (p.Leu89Val). This variant is present in population databases (rs543224303, gnomAD 0.003%). 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: 968696). 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 with a negative predictive value of 80%. 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 RCV003132341 SCV003813710 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836225 SCV002089169 uncertain significance Congenital myasthenic syndrome 2020-09-14 no assertion criteria provided clinical testing

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