ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.809A>T (p.His270Leu)

gnomAD frequency: 0.00002  dbSNP: rs1381228775
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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 RCV001041664 SCV001205290 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-09-15 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 270 of the SDHA protein (p.His270Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 839818). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SDHA protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002479266 SCV002777679 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5; Neurodegeneration with ataxia and late-onset optic atrophy 2021-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160275 SCV003855169 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-12 criteria provided, single submitter clinical testing The p.H270L variant (also known as c.809A>T), located in coding exon 7 of the SDHA gene, results from an A to T substitution at nucleotide position 809. The histidine at codon 270 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004570133 SCV005055583 uncertain significance Dilated cardiomyopathy 1GG 2024-03-19 criteria provided, single submitter clinical testing

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