ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.178A>G (p.Thr60Ala) (rs34599281)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568901 SCV000664615 likely benign Hereditary cancer-predisposing syndrome 2017-07-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000626075 SCV000746699 uncertain significance Gastrointestinal stroma tumor 2017-12-18 criteria provided, single submitter clinical testing
Invitae RCV000231407 SCV000287762 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-12-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 60 of the SDHB protein (p.Thr60Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs34599281, ExAC 0.01%). This variant has been reported in an individual affected with thyroid cancer (PMID: 25694510). ClinVar contains an entry for this variant (Variation ID: 239423). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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