ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.514C>T (p.Pro172Ser)

gnomAD frequency: 0.00008  dbSNP: rs367891116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565705 SCV001789101 uncertain significance not provided 2019-11-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002569029 SCV003273031 uncertain significance Mitochondrial trifunctional protein deficiency 2022-09-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 172 of the HADHB protein (p.Pro172Ser). This variant is present in population databases (rs367891116, gnomAD 0.02%). 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: 1200629). 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.

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