ClinVar Miner

Submissions for variant NM_001104631.2(PDE4D):c.998T>C (p.Ile333Thr)

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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 RCV003153219 SCV003842122 pathogenic Acrodysostosis 2 with or without hormone resistance 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.91; 3Cnet: 0.11). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with PDE4D related disorder, and reported as de novo in at least two similarly affected unrelated individuals (PMID: 25044890). A different missense change at the same codon (p.Ile333Val) has been reported to be associated with PDE4D related disorder (PMID: 30006632). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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