ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002439859 SCV002748699 uncertain significance Cardiovascular phenotype 2021-11-24 criteria provided, single submitter clinical testing The p.G972S variant (also known as c.2914G>A), located in coding exon 1 of the ZNF469 gene, results from a G to A substitution at nucleotide position 2914. The glycine at codon 972 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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.
Revvity Omics, Revvity RCV003138274 SCV003821851 uncertain significance Brittle cornea syndrome 1 2022-07-26 criteria provided, single submitter clinical testing

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