ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile)

dbSNP: rs1554688023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498011 SCV000590686 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing The T478I variant in the KAT6A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T478I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T478I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Threonine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T478I as a variant of uncertain significance.
Yale Center for Mendelian Genomics, Yale University RCV001849388 SCV002106551 association Vein of Galen aneurysmal malformation 2018-12-18 no assertion criteria provided literature only

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