ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.1658A>G (p.Asp553Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Pediatric Neurology, Department of Pediatrics, University Hospital Cologne RCV003493285 SCV004239110 pathogenic Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome no assertion criteria provided clinical testing The de novo heterozygous c.1658A>G, (p.Asp553Gly) variant was absent from healthy population databases (gnomAD v.3.1.2). This variant likely results in a change in the protein structure with high pathogenicity prediction tool scores. This variant was found in a patient with a phenotype that is associated to PUF60-related disorders (neurodevelopmental disorder, craniofacial dysmorphia, skeletal and skin abnormalities). A previous study has reported a similar phenotype with a missense variant located closely to this variant in a highly evolutionary conserved region (Grimes et al., 2023).

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