ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile)

gnomAD frequency: 0.00001  dbSNP: rs1187845779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722452 SCV000622003 uncertain significance not provided 2020-06-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
Fulgent Genetics, Fulgent Genetics RCV000764085 SCV000895049 uncertain significance Brittle cornea syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302761 SCV003997854 uncertain significance Cardiovascular phenotype 2023-05-27 criteria provided, single submitter clinical testing The p.S619I variant (also known as c.1856G>T), located in coding exon 1 of the ZNF469 gene, results from a G to T substitution at nucleotide position 1856. The serine at codon 619 is replaced by isoleucine, an amino acid with dissimilar 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.
PreventionGenetics, part of Exact Sciences RCV004751583 SCV005352294 uncertain significance ZNF469-related disorder 2024-08-27 no assertion criteria provided clinical testing The ZNF469 c.1856G>T variant is predicted to result in the amino acid substitution p.Ser619Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0028% of alleles in individuals of European (Non-Finnish) 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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