ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)

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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 RCV003074318 SCV003454206 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2022-04-18 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 166 of the HADH protein (p.Phe166Tyr). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Ambry Genetics RCV004978527 SCV005590017 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.497T>A (p.F166Y) alteration is located in exon 4 (coding exon 4) of the HADH gene. This alteration results from a T to A substitution at nucleotide position 497, causing the phenylalanine (F) at amino acid position 166 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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