ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.579A>G (p.Thr193=)

gnomAD frequency: 0.00001  dbSNP: rs762771153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192759 SCV000247541 uncertain significance not specified 2015-03-23 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003221848 SCV003915724 benign Hyperinsulinemic hypoglycemia criteria provided, single submitter research Potent mutations in HADH gene are associated with congenital hyperinsulinism, which leads to recurrent hypoglycemia. The condition is exacerbated by stress, fasting or excessive dietary protein. May respond well to diazoxide. However, the role of this particular variant rs762771153 in congenital hyperinsulinism is yet to be ascertained.
Labcorp Genetics (formerly Invitae), Labcorp RCV003765223 SCV004655142 likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2023-09-12 criteria provided, single submitter clinical testing

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