ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln)

dbSNP: rs1241928450
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695951 SCV000824492 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-07-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 376 of the RAPSN protein (p.Arg376Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 574114). 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 tolerated. 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 RCV003130006 SCV003813748 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026355 SCV004935802 uncertain significance Inborn genetic diseases 2024-01-08 criteria provided, single submitter clinical testing The c.1127G>A (p.R376Q) alteration is located in exon 7 (coding exon 7) of the RAPSN gene. This alteration results from a G to A substitution at nucleotide position 1127, causing the arginine (R) at amino acid position 376 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830527 SCV002087273 uncertain significance Congenital myasthenic syndrome 2020-11-11 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.