ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.1610+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV005052203 SCV005685210 uncertain significance Hyperinsulinism due to INSR deficiency 2024-06-22 criteria provided, single submitter clinical testing An INSR c.1610+5G>A variant was identified. This variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors indicate that the variant is damaging, evidence that may correlate with impact to INSR function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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