ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.341A>G (p.Asn114Ser)

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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 RCV002994915 SCV003300540 uncertain significance Mitochondrial trifunctional protein deficiency 2022-05-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 114 of the HADHB protein (p.Asn114Ser). This variant is present in population databases (rs146328300, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of mitochondrial trifunctional protein deficiency (PMID: 15902556). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Baylor Genetics RCV003333230 SCV004041043 likely pathogenic Mitochondrial trifunctional protein deficiency 2 2023-06-29 criteria provided, single submitter clinical testing

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