ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.520C>T (p.Arg174Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003314264 SCV004013456 likely pathogenic Mitochondrial trifunctional protein deficiency criteria provided, single submitter clinical testing The missense variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.79). The same nucleotide change resulting in the same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (PMID: 22000755). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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