ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.600G>A (p.Trp200Ter) (rs397516836)

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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 RCV000492138 SCV000581191 pathogenic Hereditary cancer-predisposing syndrome 2016-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Center for Human Genetics, Inc RCV000660257 SCV000782278 likely pathogenic Paragangliomas 4 2016-11-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037723 SCV000061385 likely pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes 2012-07-30 criteria provided, single submitter clinical testing The Trp200X variant in SDHB has not been previously reported in the literature n or previously identified by our laboratory. This nonsense variant is predicted t o result in a premature termination codon at position 200 and lead to a truncate d or absent protein. Heterozygous loss of function variants in the SDHB gene hav e been reported in patients with hereditary pheochromocytomas and paragangliomas (Neumann, 2002; Pasini and Stratakis, 2009). In summary, this variant is likely to be pathogenic, though segregation studies and functional analyses are requir ed to fully establish the pathogenicity of this variant.

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