ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.403T>A (p.Leu135Met)

dbSNP: rs1455783076
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 RCV000641923 SCV000763573 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-05-12 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 534378). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 135 of the SDHC protein (p.Leu135Met).
Baylor Genetics RCV003472033 SCV004203047 uncertain significance Gastrointestinal stromal tumor 2023-10-30 criteria provided, single submitter clinical testing

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.