ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.1000A>C (p.Lys334Gln)

gnomAD frequency: 0.00005  dbSNP: rs774054520
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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 RCV001313416 SCV001503912 uncertain significance Mitochondrial trifunctional protein deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 334 of the HADHB protein (p.Lys334Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. This variant is present in population databases (rs774054520, ExAC 0.03%). 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. 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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