ClinVar Miner

Submissions for variant NM_014263.4(YME1L1):c.168+1352T>G

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004478485 SCV004981902 uncertain significance not specified 2023-10-13 criteria provided, single submitter clinical testing The c.283T>G (p.L95V) alteration is located in exon 3 (coding exon 3) of the YME1L1 gene. This alteration results from a T to G substitution at nucleotide position 283, causing the leucine (L) at amino acid position 95 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005104777 SCV005768832 uncertain significance not provided 2024-05-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 95 of the YME1L1 protein (p.Leu95Val). This variant is present in population databases (rs774202908, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with YME1L1-related conditions. 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.

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.