ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.233A>T (p.Asp78Val)

dbSNP: rs1007398586
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972904 SCV002252416 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-02-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 78 of the RAPSN protein (p.Asp78Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with congenital myasthenic syndrome (PMID: 34749429). ClinVar contains an entry for this variant (Variation ID: 1468963). 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.

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