ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.122C>T (p.Thr41Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002369185 SCV002664631 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-25 criteria provided, single submitter clinical testing The p.T41I variant (also known as c.122C>T), located in coding exon 2 of the SDHAF2 gene, results from a C to T substitution at nucleotide position 122. The threonine at codon 41 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003776305 SCV004675096 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 41 of the SDHAF2 protein (p.Thr41Ile). This variant is present in population databases (rs747508289, 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: 1755173). 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.

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