ClinVar Miner

Submissions for variant NM_005327.4(HADH):c.-51delC

gnomAD frequency: 0.00074  dbSNP: rs574132278
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363186 SCV000446826 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277767 SCV000446827 uncertain significance Hyperinsulinism, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Mendelics RCV002248623 SCV002517166 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003221298 SCV003915671 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 rs574132278 in congenital hyperinsulinism is yet to be ascertained.
Breakthrough Genomics, Breakthrough Genomics RCV004695771 SCV005190217 uncertain significance not provided criteria provided, single submitter not provided

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