ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys)

dbSNP: rs2153311689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001981507 SCV002224090 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 59 of the RAPSN protein (p.Tyr59Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Revvity Omics, Revvity RCV003134285 SCV003813704 uncertain significance not provided 2019-07-22 criteria provided, single submitter clinical testing

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