ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.292T>G (p.Ser98Ala)

gnomAD frequency: 0.00002  dbSNP: rs371462564
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130580 SCV000185452 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-13 criteria provided, single submitter clinical testing The p.S98A variant (also known as c.292T>G), located in coding exon 5 of the SDHC gene, results from a T to G substitution at nucleotide position 292. The serine at codon 98 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000460687 SCV000546038 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2024-01-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 98 of the SDHC protein (p.Ser98Ala). This variant is present in population databases (rs371462564, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 141883). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508544 SCV000602176 uncertain significance not specified 2016-11-03 criteria provided, single submitter clinical testing
GeneDx RCV001557433 SCV001779192 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as p.Ser69Ala; This variant is associated with the following publications: (PMID: 31721781)
Baylor Genetics RCV003474766 SCV004203048 uncertain significance Gastrointestinal stromal tumor 2024-02-16 criteria provided, single submitter clinical testing

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