ClinVar Miner

Submissions for variant NM_004855.5(PIGB):c.1220A>G (p.His407Arg)

dbSNP: rs1566960044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680066 SCV000807506 uncertain significance Hyperphosphatasia with intellectual disability syndrome 1 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory homozygous in a 6-month-old female with clinically suspected Mabry syndrome: high alkaline phosphatase, dysmorphisms, craniosynostosis, hypoplastic nails, small PFO, hypoplastic genitalia, epilepsy. The PIGB gene is located downstream of the PIGV gene in the glycosylphosphatidylinositol anchor biosynthesis pathway. Mutations in the PIGV gene_x000D_ are responsible for Mabry syndrome.
OMIM RCV000850266 SCV000992438 pathogenic Developmental and epileptic encephalopathy, 80 2020-10-20 no assertion criteria provided literature only

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