ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.224A>G (p.Asp75Gly)

gnomAD frequency: 0.00029  dbSNP: rs142910337
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174372 SCV001337510 likely benign Monogenic diabetes 2018-03-16 criteria provided, single submitter research ACMG criteria: PP3 (2 predictors), BP4 (7 predictors), BP5 (alternate cause)=likely benign
PreventionGenetics, part of Exact Sciences RCV003928774 SCV004744373 likely benign INSR-related condition 2023-06-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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