ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.451T>C (p.Ser151Pro)

dbSNP: rs1558185927
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 RCV000693159 SCV000821015 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2018-02-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SDHC-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: "Tolerated"; PolyPhen-2: "Probably 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 151 of the SDHC protein (p.Ser151Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline.
Ambry Genetics RCV002334302 SCV002639777 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-20 criteria provided, single submitter clinical testing The p.S151P variant (also known as c.451T>C), located in coding exon 6 of the SDHC gene, results from a T to C substitution at nucleotide position 451. The serine at codon 151 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.