ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.795C>T (p.Val265=)

gnomAD frequency: 0.00004  dbSNP: rs143416676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002540969 SCV001065888 likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2023-12-26 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003222173 SCV003915753 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 rs143416676 in congenital hyperinsulinism is yet to be ascertained.

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