ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)

gnomAD frequency: 0.00006  dbSNP: rs371159065
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224287 SCV000280828 uncertain significance not provided 2015-05-12 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000793629 SCV000932991 uncertain significance Mitochondrial trifunctional protein deficiency 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 133 of the HADHB protein (p.Thr133Ala). This variant is present in population databases (rs371159065, 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: 235337). 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.
Illumina Laboratory Services, Illumina RCV000793629 SCV001298784 uncertain significance Mitochondrial trifunctional protein deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000224287 SCV001962237 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing HADHB: PM2, PM3, PP3
Fulgent Genetics, Fulgent Genetics RCV000793629 SCV002816131 uncertain significance Mitochondrial trifunctional protein deficiency 2021-09-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567689 SCV004191807 likely pathogenic Mitochondrial trifunctional protein deficiency 1 2024-02-27 criteria provided, single submitter clinical testing

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