ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, National Cheng-Kung University Hospital RCV003337711 SCV004046645 likely pathogenic Joubert syndrome 10 no assertion criteria provided clinical testing The p.Lys658Ter allele in OFD1 is a novel variant predicted to be pathogenic by multiple in silico predictive software. Discovered through Whole Exome Sequencing (WES), it was found in a hemizygous state in a male patient whose clinical presentation aligns with the diagnosis of Joubert syndrome type 10. The clinical manifestations include neurodevelopmental abnormalities and the distinctive molar tooth sign (MTS) observed on brain magnetic resonance imaging (MRI). In summary, the variant meets one very strong (PVS1), one moderate (PM2), and two supporting (PP3 and PP4) ACMG criteria during variant interpretation. It is interpreted as pathogenic by ACMG guideline. However, additional experimental data are needed to provide final evidence. Therefore, this variant was classified as likely Pathogenic.

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