ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.740C>T (p.Ala247Val)

dbSNP: rs1736337431
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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 RCV001304594 SCV001493882 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2020-09-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 247 of the HADH protein (p.Ala247Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HADH-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV003222297 SCV003915752 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 rs1736337431 in congenital hyperinsulinism is yet to be ascertained.

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