ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp)

gnomAD frequency: 0.00001  dbSNP: rs778157857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793761 SCV000933131 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 74 of the RAPSN protein (p.Arg74Trp). This variant is present in population databases (rs778157857, gnomAD 0.03%). This missense change has been observed in individual(s) with facial and body weakness, and bilateral ptosis (Invitae). ClinVar contains an entry for this variant (Variation ID: 640683). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001825550 SCV002089173 uncertain significance Congenital myasthenic syndrome 2021-02-01 no assertion criteria provided clinical testing

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