ClinVar Miner

Submissions for variant NM_033419.5(PGAP3):c.896dup (p.Ser300fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV002465973 SCV002760196 likely pathogenic Hyperphosphatasia with intellectual disability syndrome 4 2022-03-16 criteria provided, single submitter research The homozygous Ser300GlnfsTer6 in PGAP3 was identified in our region in two affected siblings with megalocornea, high ALK, severe failure to thrive and global developmental delay.

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