ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs) (rs1553177688)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000608103 SCV000711796 likely pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes 2016-06-07 criteria provided, single submitter clinical testing The p.Gln149fs variant in SDHB has not been reported in individuals with SDHB-as sociated tumors, and was absent from large population studies, though the abilit y of these studies to accurately detect indels may be limited. This variant is p redicted to cause a frameshift, which alters the protein's amino acid sequence b eginning at position 149 and leads to a premature termination codon 11 amino aci ds downstream. This alteration is then predicted to lead to a truncated or absen t protein. Heterozygous loss of function of the SDHB gene is an established dise ase mechanism in individuals with hereditary paragangliomas and pheochromocytoma s. In summary, although additional studies are required to fully establish its c linical significance, the p.Gln149fs variant is likely pathogenic.

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