ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.206G>A (p.Arg69His)

gnomAD frequency: 0.00002  dbSNP: rs753474292
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222477 SCV000274963 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-27 criteria provided, single submitter clinical testing The p.R69H variant (also known as c.206G>A), located in coding exon 2 of the SDHAF2 gene, results from a G to A substitution at nucleotide position 206. The arginine at codon 69 is replaced by histidine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000792983 SCV000932314 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-10-04 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 69 of the SDHAF2 protein (p.Arg69His). This variant is present in population databases (rs753474292, gnomAD 0.01%). 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: 231193). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800552 SCV002046779 uncertain significance not specified 2021-03-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503868 SCV002812840 uncertain significance Paragangliomas 2 2021-09-02 criteria provided, single submitter clinical testing

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