ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser)

gnomAD frequency: 0.00001  dbSNP: rs747022200
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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 RCV000697271 SCV000825871 uncertain significance Hereditary pheochromocytoma-paraganglioma 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 114 of the SDHAF2 protein (p.Asn114Ser). This variant is present in population databases (rs747022200, gnomAD 0.06%). 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: 575138). 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.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153814 SCV003843649 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472224 SCV004202936 uncertain significance Paragangliomas 2 2023-09-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000697271 SCV004830372 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026400 SCV005027484 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-09 criteria provided, single submitter clinical testing The p.N114S variant (also known as c.341A>G), located in coding exon 3 of the SDHAF2 gene, results from an A to G substitution at nucleotide position 341. The asparagine at codon 114 is replaced by serine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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