ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.316T>C (p.Cys106Arg)

dbSNP: rs777801296
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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 RCV001321613 SCV001512450 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 106 of the RAPSN protein (p.Cys106Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of RAPSN-related conditions (PMID: 21520333). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. 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: "Possibly 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.

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