ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.4394A>G (p.His1465Arg)

dbSNP: rs1064793874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482815 SCV000567243 likely pathogenic not provided 2017-01-25 criteria provided, single submitter clinical testing The H1485R variant in the TAF1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H1485R variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The H1485R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret H1485R is a strong candidate for a pathogenic variant.
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV001027760 SCV000998778 likely pathogenic Intellectual disability, X-linked, syndromic 33 2019-09-23 no assertion criteria provided clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849379 SCV002106740 association Heart, malformation of 2020-06-13 no assertion criteria provided literature only

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