ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) (rs191412461)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227636 SCV000288127 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-12-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 660 of the SDHA protein (p.Ala660Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs191412461, ExAC 0.05%). This variant has been reported in an individual affected with pheochromocytoma and paraganglioma syndrome (PMID: 28384794). ClinVar contains an entry for this variant (Variation ID: 239660). 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.
Counsyl RCV000409751 SCV000488533 uncertain significance Paragangliomas 5 2016-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563763 SCV000674932 benign Hereditary cancer-predisposing syndrome 2014-11-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998351 SCV001154364 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing

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