ClinVar Miner

Submissions for variant NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del)

dbSNP: rs1582192007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732004 SCV001982172 pathogenic not provided 2019-07-18 criteria provided, single submitter clinical testing Also reported as c.3559_3579del due to alternate nomenclature; In-frame deletion of 7 amino acids in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25064072, 29868001, 25714577, 29527791)
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985128 SCV001133112 pathogenic Trichohepatoenteric syndrome 2 2019-09-26 no assertion criteria provided clinical testing
OMIM RCV000985128 SCV002578248 pathogenic Trichohepatoenteric syndrome 2 2022-10-10 no assertion criteria provided literature only

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