ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys)

gnomAD frequency: 0.00001  dbSNP: rs778449586
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801877 SCV000941675 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-09-19 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 647376). This variant has not been reported in the literature in individuals affected with SDHAF2-related conditions. This variant is present in population databases (rs778449586, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 4 of the SDHAF2 protein (p.Ser4Cys). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
Ambry Genetics RCV001010273 SCV001170445 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-03 criteria provided, single submitter clinical testing The p.S4C variant (also known as c.11C>G), located in coding exon 1 of the SDHAF2 gene, results from a C to G substitution at nucleotide position 11. The serine at codon 4 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is poorly 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 RCV003472368 SCV004202957 uncertain significance Paragangliomas 2 2022-12-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000801877 SCV004826867 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-04-27 criteria provided, single submitter clinical testing

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