ClinVar Miner

Submissions for variant NM_001350421.2(RIMS1):c.-94G>A

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001356408 SCV001551569 uncertain significance not provided no assertion criteria provided clinical testing The RIMS1 p.Glu22Lys variant was not identified in the literature or in the ClinVar, Cosmic, or LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs181193740) and in control databases in 74 of 170214 chromosomes at a frequency of 0.000435 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 57 of 16300 chromosomes (freq: 0.003497), Latino in 15 of 25190 chromosomes (freq: 0.000596), European (non-Finnish) in 1 of 71104 chromosomes (freq: 0.000014), and Other in 1 of 5268 chromosomes (freq: 0.00019); it was not observed in the Ashkenazi Jewish, East Asian, European (Finnish), and South Asian populations. The p.Glu22 residue is conserved in mammals but not in more distantly related organisms and 4 of 5 computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM) do not suggest a high likelihood of impact to the protein; this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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.