ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met)

gnomAD frequency: 0.00001  dbSNP: rs553909579
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002211369 SCV002497951 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277043 SCV002565401 uncertain significance Ehlers-Danlos syndrome 2021-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002391370 SCV002675096 uncertain significance Cardiovascular phenotype 2021-05-21 criteria provided, single submitter clinical testing The p.R2504M variant (also known as c.7511G>T), located in coding exon 2 of the ZNF469 gene, results from a G to T substitution at nucleotide position 7511. The arginine at codon 2504 is replaced by methionine, an amino acid with similar properties. This amino acid position is poorly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002211369 SCV003491064 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003485768 SCV004237790 uncertain significance Brittle cornea syndrome 1 2023-12-19 criteria provided, single submitter clinical testing

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