ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.4165G>C (p.Glu1389Gln)

dbSNP: rs2529190447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002467036 SCV002762068 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002571409 SCV003546300 uncertain significance Inborn genetic diseases 2020-10-14 criteria provided, single submitter clinical testing The c.4165G>C (p.E1389Q) alteration is located in exon 19 (coding exon 18) of the POGZ gene. This alteration results from a G to C substitution at nucleotide position 4165, causing the glutamic acid (E) at amino acid position 1389 to be replaced by a glutamine (Q). Based on data from the Genome Aggregation Database (gnomAD), the POGZ c.4165G>C alteration was not observed, with coverage at this position. This amino acid position is highly conserved in available vertebrate species. The p.E1389Q alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003340495 SCV004049772 uncertain significance Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-04-11 criteria provided, single submitter clinical testing

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