ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.634G>A (p.Val212Met)

dbSNP: rs1553226286
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523607 SCV000619061 uncertain significance not provided 2019-10-08 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678378 SCV000804446 uncertain significance Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2017-08-30 criteria provided, single submitter provider interpretation This 12 year old male with autism spectrum disorder, anxiety, learning disorder, motor stereotypies, esotropia, myopia, enuresis, and dysmorphic features (particularly midface hypoplasia and a generally flat face) was found to carry a missense variant in the POGZ gene. Inheritance is unknown, as a paternal sample is unavailable. The patient's father is reported to have autistic features. Intellectual disability, autism, dysmorphic features, and vision issues have been seen in individuals with pathogenic variants in POGZ. The p.Val212Met variant is absent from population databases. Computational prediction models are inconsistent.
Baylor Genetics RCV000678378 SCV003835934 uncertain significance Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-11-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000678378 SCV004049839 uncertain significance Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-04-11 criteria provided, single submitter clinical testing

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