ClinVar Miner

Submissions for variant NM_018993.4(RIN2):c.41G>A (p.Arg14Gln)

gnomAD frequency: 0.00032  dbSNP: rs367797077
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001547479 SCV001767194 uncertain significance not provided 2021-06-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001547479 SCV003241811 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1187886). This variant has not been reported in the literature in individuals affected with RIN2-related conditions. This variant is present in population databases (rs367797077, gnomAD 0.08%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 14 of the RIN2 protein (p.Arg14Gln).
Revvity Omics, Revvity RCV003132516 SCV003816153 uncertain significance RIN2 syndrome 2021-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039281 SCV004938450 uncertain significance Inborn genetic diseases 2023-01-18 criteria provided, single submitter clinical testing The c.41G>A (p.R14Q) alteration is located in exon 1 (coding exon 1) of the RIN2 gene. This alteration results from a G to A substitution at nucleotide position 41, causing the arginine (R) at amino acid position 14 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion RCV003132516 SCV005328623 likely benign RIN2 syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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.