Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

doi:10.1016/j.gim.2021.08.004

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Article

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2022

Garrett Alice, Loveday Chey, King Laura, Butler Samantha, Robinson Rachel, Horton Carrie, Yussuf Amal, Choi Subin, Torr Beth, Durkie Miranda, Burghel George J, Drummond James, Berry Ian, Wallace Andrew, Callaway Alison, Eccles Diana, Tischkowitz Marc, Tatton-Brown Katrina, Snape Katie, McVeigh Terri, Izatt Louise, Woodward Emma R, Burnichon Nelly, Gimenez-Roqueplo Anne-Paule, Mazzarotto Francesco, Whiffin Nicola, Ware James, Hanson Helen, Pesaran Tina, LaDuca Holly, Buffet Alexandre, Maher Eamonn R, Turnbull Clare

Abstract excerpt

PURPOSE: The weight of the evidence to attach to observation of a novel rare missense variant in SDHB or SDHD in individuals with the rare neuroendocrine tumors, pheochromocytomas and paragangliomas (PCC/PGL), is uncertain. METHODS: We compared the frequency of SDHB and SDHD very rare missense variants (VRMVs) in 6328 and 5847 cases of PCC/PGL, respectively, with that of population controls to generate a pan-gene...

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PMID: 34906457
DOI: 10.1016/j.gim.2021.08.004
PMCID: PMC8759765

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