ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.674C>T (p.Ala225Val)

dbSNP: rs1565684828
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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 RCV000696238 SCV000824790 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2018-04-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 225 of the RAPSN protein (p.Ala225Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAPSN-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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.

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