ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.456G>T (p.Gln152His)

gnomAD frequency: 0.00195  dbSNP: rs1051519
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194877 SCV000247540 uncertain significance not specified 2015-07-23 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000664100 SCV000787552 uncertain significance Monogenic diabetes 2017-03-24 criteria provided, single submitter research ACMG Criteria:PP3 (3 predictors), BP4 (7 predictors)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757347 SCV000885537 benign not provided 2022-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764522 SCV000895605 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase; Hyperinsulinemic hypoglycemia, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086439 SCV001006442 likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001143929 SCV001304495 uncertain significance Hyperinsulinemic hypoglycemia, familial, 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001086439 SCV001304496 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000757347 SCV001768210 likely benign not provided 2020-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 8687463)
CeGaT Center for Human Genetics Tuebingen RCV000757347 SCV004148677 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing HADH: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003907686 SCV004726673 likely benign HADH-related disorder 2023-12-01 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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