ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.175T>C (p.Tyr59His)

dbSNP: rs1555143594
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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 RCV000557904 SCV000656541 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2016-08-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 59 of the RAPSN protein (p.Tyr59His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAPSN-related disease. 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, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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