ClinVar Miner

Submissions for variant NM_005327.5(HADH):c.676T>C (p.Tyr226His) (rs146036912)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000194052 SCV000223932 likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2014-11-19 criteria provided, single submitter clinical testing
Invitae RCV000194052 SCV000937777 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2018-11-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 226 of the HADH protein (p.Tyr226His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs146036912, ExAC 0.01%). This variant has been reported in combination with another HADH variant in an individual affected with M/SCHAD deficiency (PMID: 16725361). This variant is also known as p.Y214H in the literature. ClinVar contains an entry for this variant (Variation ID: 212734). Experimental studies have shown that this missense change abrogates HADH enzyme activity  (PMID: 16725361). 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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