ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.266G>A (p.Gly89Asp)

gnomAD frequency: 0.00001  dbSNP: rs1292646768
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793783 SCV000933155 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 89 of the HADH protein (p.Gly89Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with HADH-related conditions. 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 RCV003221357 SCV003915695 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 rs1292646768 in congenital hyperinsulinism is yet to be ascertained.

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