ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.863C>T (p.Ala288Val)

gnomAD frequency: 0.00003  dbSNP: rs760068830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239329 SCV001412198 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 288 of the RAPSN protein (p.Ala288Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs760068830, ExAC 0.007%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV003132324 SCV003813732 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834085 SCV002089046 uncertain significance Congenital myasthenic syndrome 2020-08-24 no assertion criteria provided clinical testing

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