ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del)

dbSNP: rs1215843229
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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 RCV001330323 SCV001521968 uncertain significance Brittle cornea syndrome 1 2019-03-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001863219 SCV002173275 uncertain significance not provided 2022-07-18 criteria provided, single submitter clinical testing This variant, c.6897_6899del, results in the deletion of 1 amino acid(s) of the ZNF469 protein (p.Ser2300del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ZNF469-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002368111 SCV002662947 uncertain significance Cardiovascular phenotype 2020-02-20 criteria provided, single submitter clinical testing The c.6897_6899delCTC variant (also known as p.S2300del) is located in coding exon 2 of the ZNF469 gene. This variant results from an in-frame CTC deletion at nucleotide positions 6897 to 6899. This results in the in-frame deletion of a serine at codon 2300. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001863219 SCV004036900 uncertain significance not provided 2023-09-22 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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