ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.-115del

gnomAD frequency: 0.00053  dbSNP: rs537335460
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000405942 SCV000446818 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305842 SCV000446819 uncertain significance Hyperinsulinism, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488759 SCV002775245 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase; Hyperinsulinemic hypoglycemia, familial, 4 2022-01-12 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003221294 SCV003915665 uncertain 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 rs537335460 in congenital hyperinsulinism is yet to be ascertained.

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