ClinVar Miner

Submissions for variant NM_003000.3(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
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.
Ambry Genetics RCV000492138 SCV000581191 pathogenic Hereditary cancer-predisposing syndrome 2018-05-11 criteria provided, single submitter clinical testing The p.W200* pathogenic mutation (also known as c.600G>A), located in coding exon 6 of the SDHB gene, results from a G to A substitution at nucleotide position 600. This changes the amino acid from a tryptophan to a stop codon within coding exon 6. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660257 SCV000782278 likely pathogenic Paragangliomas 4 2016-11-01 criteria provided, single submitter clinical testing

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