ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.163A>G (p.Ile55Val)

gnomAD frequency: 0.00001  dbSNP: rs768095572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227811 SCV002506942 uncertain significance Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2021-04-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738562 SCV005358689 uncertain significance POGZ-related disorder 2024-08-28 no assertion criteria provided clinical testing The POGZ c.163A>G variant is predicted to result in the amino acid substitution p.Ile55Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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