ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.340A>G (p.Asn114Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004574036 SCV004191819 pathogenic Mitochondrial trifunctional protein deficiency 1 2024-03-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004765846 SCV005381306 likely pathogenic Mitochondrial trifunctional protein deficiency 2024-08-06 criteria provided, single submitter clinical testing Variant summary: HADHB c.340A>G (p.Asn114Asp) results in a conservative amino acid change located in the N-terminal domain (IPR020616) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251404 control chromosomes (gnomAD). c.340A>G has been reported in the literature in individuals with clinical and/or laboratory features of Mitochondrial Trifunctional Protein Deficiency (e.g. Choi_2007, Lee_2017 [No PMID], Lu_2018, Kang_2018, Kim_2021 [No PMID], Hong_2022). These data indicate that the variant is likely to 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: 17143551, 29956646, 35387801, 29519241). ClinVar contains an entry for this variant (Variation ID: 2675986). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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