ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.3843_3846del (p.Lys1281fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV004808515 SCV005431440 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2024-12-13 criteria provided, single submitter clinical testing This variant was detected in a male with moderate intellectual disability, obesity. Rare truncating variants affecting the POGZ gene are documented as a molecular cause of "White-Sutton syndrome" (WHSUS; OMIM:616364; PMID:35821784;33377604;26942287;26739615). To conclude, the variant is classified as likely pathogenic (ACMG PVS1, PM2, PP5).

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