ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.22A>G (p.Ser8Gly)

dbSNP: rs1865619629
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002240503 SCV001228494 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2019-02-17 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SDHD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 8 of the SDHD protein (p.Ser8Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine.
Ambry Genetics RCV004030500 SCV005020196 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-11 criteria provided, single submitter clinical testing The p.S8G variant (also known as c.22A>G), located in coding exon 1 of the SDHD gene, results from an A to G substitution at nucleotide position 22. The serine at codon 8 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, 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.