ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)

gnomAD frequency: 0.00001  dbSNP: rs765611464
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463083 SCV000553853 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-06-19 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SDHA protein function. ClinVar contains an entry for this variant (Variation ID: 412341). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 271 of the SDHA protein (p.Thr271Ser).
Fulgent Genetics, Fulgent Genetics RCV000765827 SCV000897222 uncertain significance Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001775822 SCV002012847 uncertain significance not provided 2019-05-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002418426 SCV002678787 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-19 criteria provided, single submitter clinical testing The p.T271S variant (also known as c.812C>G), located in coding exon 7 of the SDHA gene, results from a C to G substitution at nucleotide position 812. The threonine at codon 271 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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.

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