ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.827-10C>T

gnomAD frequency: 0.00011  dbSNP: rs372610846
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001421184 SCV001623706 likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2024-09-06 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003222174 SCV003915772 likely 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 rs372610846 in congenital hyperinsulinism is yet to be ascertained.
PreventionGenetics, part of Exact Sciences RCV003960396 SCV004781680 likely benign HADH-related disorder 2019-08-29 no assertion criteria provided 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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