ClinVar Miner

Submissions for variant NM_014334.4(FRRS1L):c.604G>A (p.Val202Ile)

gnomAD frequency: 0.00003  dbSNP: rs753224453
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000689893 SCV000817563 uncertain significance Developmental and epileptic encephalopathy, 37 2024-04-02 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 253 of the FRRS1L protein (p.Val253Ile). This variant is present in population databases (rs753224453, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FRRS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 569298). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Baylor Genetics RCV000689893 SCV001525526 uncertain significance Developmental and epileptic encephalopathy, 37 2019-06-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV003432735 SCV004158547 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing FRRS1L: PM2

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.