ClinVar Miner

Submissions for variant NM_021939.3(FKBP10):c.877_879del (p.Tyr293del) (rs869320752)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598565 SCV000709875 pathogenic not provided 2018-10-05 criteria provided, single submitter clinical testing The c.877_879delTAC variant in the FKBP10 gene is a founder mutation in the Eskimo population associated with Kuskokwim syndrome (Barnes et al., 2013). Barnes et al. determined that this in-frame deletion destabilizes the FKBP65 protein with western blots detecting only approximately 3-6% of FKBP65 protein in fibroblasts from affected individuals in comparison to normal controls. The c.877_879delTAC variant is not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We classify c.877_879delTAC as a pathogenic variant.
OMIM RCV000190460 SCV000245338 pathogenic Bruck syndrome 1 2013-09-01 no assertion criteria provided literature only

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