ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg)

dbSNP: rs768882267
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244496 SCV001417722 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-11-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 395 of the RAPSN protein (p.Gly395Arg). This variant is present in population databases (rs768882267, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. ClinVar contains an entry for this variant (Variation ID: 969203). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002568591 SCV003533429 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.1183G>A (p.G395R) alteration is located in exon 8 (coding exon 8) of the RAPSN gene. This alteration results from a G to A substitution at nucleotide position 1183, causing the glycine (G) at amino acid position 395 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829932 SCV002087251 uncertain significance Congenital myasthenic syndrome 2020-03-25 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.