ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.1573C>T (p.Arg525Ter)

dbSNP: rs1599937180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001007958 SCV001167682 likely pathogenic not provided 2019-02-14 criteria provided, single submitter clinical testing The R525X variant in the INSR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R525X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R525X as a likely pathogenic variant.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002291289 SCV002583821 likely pathogenic Hyperinsulinism due to INSR deficiency 2022-08-10 criteria provided, single submitter clinical testing PVS1 PM2

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