ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.398G>A (p.Arg133Gln)

gnomAD frequency: 0.00001  dbSNP: rs386833414
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797358 SCV000936911 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 133 of the SDHC protein (p.Arg133Gln). 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: 41775). 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 disruptive. 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.
Baylor Genetics RCV003473255 SCV004203076 uncertain significance Gastrointestinal stromal tumor 2023-05-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996177 SCV004826333 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004018733 SCV005019721 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-23 criteria provided, single submitter clinical testing The p.R133Q variant (also known as c.398G>A), located in coding exon 5 of the SDHC gene, results from a G to A substitution at nucleotide position 398. The arginine at codon 133 is replaced by glutamine, an amino acid with highly 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. Based on the available evidence, the clinical significance of this alteration remains unclear.
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034694 SCV000043494 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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