ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.775C>T (p.Arg259Cys)

gnomAD frequency: 0.00008  dbSNP: rs150207592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517478 SCV000614856 uncertain significance not specified 2016-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851454 SCV002162414 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 259 of the RAPSN protein (p.Arg259Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs150207592, ExAC 0.03%). 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: 448159). 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. RCV001834667 SCV002089101 uncertain significance Congenital myasthenic syndrome 2019-11-11 no assertion criteria provided clinical testing

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