ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.324C>T (p.Ser108=)

gnomAD frequency: 0.00004  dbSNP: rs373153417
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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 RCV002066024 SCV002329583 likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2023-11-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003222175 SCV003915732 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 rs373153417 in congenital hyperinsulinism is yet to be ascertained.
PreventionGenetics, part of Exact Sciences RCV003895631 SCV004708569 likely benign HADH-related disorder 2020-10-02 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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