Submissions for variant NM_005327.7(HADH):c.881A>G (p.Asn294Ser)

gnomAD frequency: 0.00738  dbSNP: rs36030668

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445389	SCV000537025	benign	Monogenic diabetes	2018-11-21	criteria provided, single submitter	research	ACMG criteria: BA1(2 % MAF in Africans), BS2 (5 homo in gnomAD, 64 T2DM control~cases) [BP4 (4 predictors), PP3 (6 predictors), REVEL: 0.283--conflicting data, no predictors used]=benign
Genetic Services Laboratory, University of Chicago	RCV000502882	SCV000595088	benign	not specified	2019-04-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000865133	SCV001006051	benign	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001653781	SCV001868994	benign	not provided	2019-01-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002481352	SCV002796113	likely benign	Deficiency of 3-hydroxyacyl-CoA dehydrogenase; Hyperinsulinemic hypoglycemia, familial, 4	2021-11-12	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003221981	SCV003915771	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 rs36030668 in congenital hyperinsulinism is yet to be ascertained.
Breakthrough Genomics, Breakthrough Genomics	RCV001653781	SCV005304336	benign	not provided		criteria provided, single submitter	not provided