ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.1505G>A (p.Arg502Lys)

gnomAD frequency: 0.00026  dbSNP: rs146816269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318762 SCV000850120 uncertain significance Inborn genetic diseases 2016-07-27 criteria provided, single submitter clinical testing The p.R502K variant (also known as c.1505G>A), located in coding exon 8 of the POGZ gene, results from a G to A substitution at nucleotide position 1505. The arginine at codon 502 is replaced by lysine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs146816269. Based on data from the 1000 Genomes Project, the A allele has an overall frequency of approximately 0.05% (1/2098) total alleles studied. The highest observed frequency was 0.59% (1/170) CEPH alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.02% (2/13006) total alleles studied and 0.02% (2/8600) European American alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV000994098 SCV001147418 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000994098 SCV001813641 likely benign not provided 2019-12-03 criteria provided, single submitter clinical testing

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