ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10744G>A (p.Ala3582Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004785042 SCV005397497 uncertain significance Brittle cornea syndrome 1 2023-07-12 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (G>A) at position 10660 of the coding sequence of the ZNF469 gene that results in an alanine to threonine amino acid change at residue 3554 of the ZNF469 protein. This variant is absent from ClinVar and has not been observed in the literature, to our knowledge. This variant is present in 1 of 151814 alleles (0.0007%) in the gnomAD population dataset. Multiple bioinformatic tools predict that this alanine to threonine amino acid change would be neutral, and the Ala3554 residue at this position is poorly conserved across the vertebrate species examined. Studies examining the functiol consequence of this variant have not been performed, to our knowledge. At this time, there is insufficient evidence to determine if this variant is pathogenic or benign. Therefore, we consider this a variant of uncertain significance. ACMG Criteria: BP1, PM2

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