ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.686G>A (p.Arg229Gln)

dbSNP: rs375654005
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493086 SCV000582105 likely pathogenic not provided 2019-07-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30990523)
Baylor Genetics RCV004568622 SCV004199803 likely pathogenic Mitochondrial trifunctional protein deficiency 1 2023-11-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586739 SCV005076591 uncertain significance not specified 2024-04-24 criteria provided, single submitter clinical testing Variant summary: HADHB c.686G>A (p.Arg229Gln) results in a conservative amino acid change located in the Thiolase, N-terminal (IPR020616) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251326 control chromosomes (gnomAD). c.686G>A has been reported in the literature in individuals affected with features of Mitochondrial Trifunctional Protein Deficiency (Madsen_2019, Guan_2021). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 30990523, 34712195). ClinVar contains an entry for this variant (Variation ID: 429516). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005027569 SCV005655909 likely pathogenic Mitochondrial trifunctional protein deficiency 2 2024-04-24 criteria provided, single submitter clinical testing

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