ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)

gnomAD frequency: 0.00001  dbSNP: rs569384870
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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 RCV000473140 SCV000553846 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2022-10-29 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 156 of the SDHA protein (p.Tyr156Asp). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 412335). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
GeneDx RCV002244940 SCV002513171 uncertain significance not provided 2022-05-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002329085 SCV002634400 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-22 criteria provided, single submitter clinical testing The p.Y156D variant (also known as c.466T>G), located in coding exon 5 of the SDHA gene, results from a T to G substitution at nucleotide position 466. The tyrosine at codon 156 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV002496791 SCV002782876 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5; Neurodegeneration with ataxia and late-onset optic atrophy 2021-10-20 criteria provided, single submitter clinical testing

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