ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.263C>T (p.Ser88Leu)

gnomAD frequency: 0.00001  dbSNP: rs778212096
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472364 SCV000546034 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 88 of the SDHC protein (p.Ser88Leu). This variant is present in population databases (rs778212096, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 407056). 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.
Ambry Genetics RCV001016164 SCV001177083 likely benign Hereditary cancer-predisposing syndrome 2020-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001770320 SCV001994710 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in at least one individual with an unspecified cancer undergoing multigene panel testing (Mandelker 2017); This variant is associated with the following publications: (PMID: 28873162)
Baylor Genetics RCV003476038 SCV004203055 uncertain significance Gastrointestinal stromal tumor 2023-10-06 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.