ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.1115A>T (p.Asp372Val)

gnomAD frequency: 0.00004  dbSNP: rs374840025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053590 SCV001217859 uncertain significance Mitochondrial trifunctional protein deficiency 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 372 of the HADHB protein (p.Asp372Val). This variant is present in population databases (rs374840025, gnomAD 0.004%). 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: 849588). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507555 SCV001713164 uncertain significance not provided 2021-03-02 criteria provided, single submitter clinical testing
GeneDx RCV001507555 SCV002074018 likely pathogenic not provided 2024-01-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34317416, 33638202)

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