ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.53C>T (p.Ala18Val) (rs192332761)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571997 SCV000675111 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Illumina Clinical Services Laboratory,Illumina RCV000344579 SCV000367343 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473458 SCV000554055 uncertain significance Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 18 of the SDHD protein (p.Ala18Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs192332761, ExAC 0.01%). This variant has been reported in an individual affected with a pituitary adenoma (PMID: 25695889). ClinVar contains an entry for this variant (Variation ID: 302481) 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506525 SCV000602188 uncertain significance not specified 2017-01-23 criteria provided, single submitter clinical testing

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