ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.31C>T (p.Arg11Cys)

gnomAD frequency: 0.00002  dbSNP: rs759914119
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700704 SCV000829471 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-12-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 11 of the SDHC protein (p.Arg11Cys). This variant is not present in population databases (gnomAD no frequency). 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: 577853). 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268262 SCV002552540 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325411 SCV002609133 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-10 criteria provided, single submitter clinical testing The p.R11C variant (also known as c.31C>T), located in coding exon 2 of the SDHC gene, results from a C to T substitution at nucleotide position 31. The arginine at codon 11 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration was detected in a cohort of 45 Lebanese breast cancer patients undergoing whole exome sequencing (Jalkh N et al. BMC Med Genomics, 2017 02;10:8). This amino acid position is well 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.
All of Us Research Program, National Institutes of Health RCV003999707 SCV004818695 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-08-15 criteria provided, single submitter clinical testing

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