ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.99C>G (p.Ile33Met)

gnomAD frequency: 0.00038  dbSNP: rs74428123
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875072 SCV001017344 likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003221359 SCV003915684 likely risk allele 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 rs74428123 in congenital hyperinsulinism is yet to be ascertained.
PreventionGenetics, part of Exact Sciences RCV003967916 SCV004778400 likely benign HADH-related condition 2021-05-17 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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