ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) (rs1556002568)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660136 SCV000782130 pathogenic Neurofibromatosis, type 2 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001567642 SCV001791365 likely pathogenic not provided 2019-12-16 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect: fails to bind Lats1 and results in decreased phosphor-YAP (Li et al., 2015); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16983642, 26045165)

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