ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.169G>A (p.Glu57Lys)

gnomAD frequency: 0.00001  dbSNP: rs759556749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213276 SCV001384902 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-12-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 57 of the SDHAF2 protein (p.Glu57Lys). This variant is present in population databases (rs759556749, gnomAD 0.006%). 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: 943146). 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.
Ambry Genetics RCV004033882 SCV005027419 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-13 criteria provided, single submitter clinical testing The p.E57K variant (also known as c.169G>A), located in coding exon 2 of the SDHAF2 gene, results from a G to A substitution at nucleotide position 169. The glutamic acid at codon 57 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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