ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.458T>C (p.Ile153Thr)

gnomAD frequency: 0.00001  dbSNP: rs1396860069
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057543 SCV001222041 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2022-09-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 153 of the SDHB protein (p.Ile153Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 852842). 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.
Ambry Genetics RCV002339287 SCV002638607 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-07 criteria provided, single submitter clinical testing The p.I153T variant (also known as c.458T>C), located in coding exon 5 of the SDHB gene, results from a T to C substitution at nucleotide position 458. The isoleucine at codon 153 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
GeneDx RCV003442179 SCV004168397 uncertain significance not provided 2023-04-19 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
Baylor Genetics RCV003473663 SCV004202970 uncertain significance Gastrointestinal stromal tumor 2023-10-17 criteria provided, single submitter clinical testing

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