ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.494G>A (p.Arg165Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067135 SCV001232175 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2019-01-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 165 of the HADH protein (p.Arg165Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs768880930, ExAC 0.02%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). 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.

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