ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys)

gnomAD frequency: 0.00005  dbSNP: rs387907063
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330321 SCV001521966 uncertain significance Brittle cornea syndrome 1 2020-02-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002259389 SCV002538800 uncertain significance not provided 2022-06-16 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002259389 SCV002932154 uncertain significance not provided 2022-02-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1392 of the ZNF469 protein (p.Glu1392Lys). This variant is present in population databases (rs387907063, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with ZNF469-related conditions. ClinVar contains an entry for this variant (Variation ID: 1029104). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004035692 SCV003706205 uncertain significance Cardiovascular phenotype 2022-11-30 criteria provided, single submitter clinical testing The c.4174G>A (p.E1392K) alteration is located in exon 2 (coding exon 2) of the ZNF469 gene. This alteration results from a G to A substitution at nucleotide position 4174, causing the glutamic acid (E) at amino acid position 1392 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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