ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.845G>A (p.Arg282His)

gnomAD frequency: 0.00006  dbSNP: rs140355426
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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 RCV002018478 SCV002302836 uncertain significance Mitochondrial trifunctional protein deficiency 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 282 of the HADHB protein (p.Arg282His). This variant is present in population databases (rs140355426, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HADHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1513753). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt HADHB protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793703 SCV005411648 uncertain significance not provided 2024-05-31 criteria provided, single submitter clinical testing PP3

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