ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7831G>A (p.Glu2611Lys)

gnomAD frequency: 0.00006  dbSNP: rs281865151
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487653 SCV000575071 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000487653 SCV002133078 uncertain significance not provided 2022-06-09 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 2583 of the ZNF469 protein (p.Glu2583Lys). This variant is present in population databases (rs281865151, gnomAD 0.02%). This missense change has been observed in individual(s) with keratoconus (PMID: 24895405). ClinVar contains an entry for this variant (Variation ID: 126945). 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.
GeneDx RCV000487653 SCV004167774 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing Identified in an individual from a cohort of patients with keratoconus (PMID: 24895405); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24895405)
Willoughby Group, Queen's University Belfast RCV000114801 SCV000148696 probable-pathogenic Keratoconus 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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