ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.47C>T (p.Ser16Phe)

gnomAD frequency: 0.00003  dbSNP: rs374248298
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174480 SCV001337619 uncertain significance Monogenic diabetes 2019-01-18 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.123 + 7 predictors) = VUS
Labcorp Genetics (formerly Invitae), Labcorp RCV001873641 SCV002223751 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 16 of the HADH protein (p.Ser16Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs374248298, ExAC 0.008%). This variant has not been reported in the literature in individuals affected with HADH-related conditions. ClinVar contains an entry for this variant (Variation ID: 917461). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003221364 SCV003915680 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 rs374248298 in congenital hyperinsulinism is yet to be ascertained.

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