ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.127A>C (p.Asn43His)

dbSNP: rs1553262439
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641914 SCV000763564 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-08-09 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 534372). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 43 of the SDHC protein (p.Asn43His).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800837 SCV002046470 uncertain significance not provided 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386064 SCV002695626 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-03 criteria provided, single submitter clinical testing The p.N43H variant (also known as c.127A>C), located in coding exon 3 of the SDHC gene, results from an A to C substitution at nucleotide position 127. The asparagine at codon 43 is replaced by histidine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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.