ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.67C>A (p.Leu23Met) (rs749807415)

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
Invitae RCV000554350 SCV000637932 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2020-05-25 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 23 of the TMEM127 protein (p.Leu23Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TMEM127-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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 RCV001294226 SCV001483080 uncertain significance Pheochromocytoma 2020-08-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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.