ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.98G>A (p.Arg33His)

gnomAD frequency: 0.00002  dbSNP: rs777442412
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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 RCV000639349 SCV000760921 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-12-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 33 of the SDHAF2 protein (p.Arg33His). This variant is present in population databases (rs777442412, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SDHAF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 532518). 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001579475 SCV002011574 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386044 SCV002690985 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-12 criteria provided, single submitter clinical testing The p.R33H variant (also known as c.98G>A), located in coding exon 2 of the SDHAF2 gene, results from a G to A substitution at nucleotide position 98. The arginine at codon 33 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579475 SCV001807402 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001579475 SCV001955572 likely benign not provided no assertion criteria provided clinical testing

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