ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr)

dbSNP: rs200695559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660649 SCV000782776 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2018-02-09 criteria provided, single submitter clinical testing
Invitae RCV000660649 SCV001415952 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-12-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 265 of the RAPSN protein (p.Ala265Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 548027). 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.

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