ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser)

gnomAD frequency: 0.00001  dbSNP: rs952830677
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223024 SCV001395153 uncertain significance Hereditary pheochromocytoma-paraganglioma 2024-06-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 32 of the SDHAF2 protein (p.Arg32Ser). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 951169). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV003163731 SCV003858356 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-01 criteria provided, single submitter clinical testing The p.R32S variant (also known as c.96A>T), located in coding exon 2 of the SDHAF2 gene, results from an A to T substitution at nucleotide position 96. The arginine at codon 32 is replaced by serine, an amino acid with dissimilar 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.
Baylor Genetics RCV003473778 SCV004202934 uncertain significance Paragangliomas 2 2023-09-27 criteria provided, single submitter clinical testing

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