ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln)

gnomAD frequency: 0.00003  dbSNP: rs780963721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693236 SCV000821096 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 242 of the RAPSN protein (p.Arg242Gln). 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: 571961). 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. This variant disrupts the p.Arg242 amino acid residue in RAPSN. Other variant(s) that disrupt this residue have been observed in individuals with RAPSN-related conditions (PMID: 19620612), which suggests that this may be a clinically significant amino acid residue. 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. RCV001830515 SCV002089134 uncertain significance Congenital myasthenic syndrome 2019-11-11 no assertion criteria provided clinical testing

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