ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.713G>A (p.Arg238Gln)

gnomAD frequency: 0.00002  dbSNP: rs369313023
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371556 SCV001568126 uncertain significance Mitochondrial trifunctional protein deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 238 of the HADHB protein (p.Arg238Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs369313023, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with HADHB-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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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