ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.3973G>A (p.Val1325Ile)

dbSNP: rs1131691982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492896 SCV000583268 likely pathogenic not provided 2017-11-08 criteria provided, single submitter clinical testing The V1345I variant in the TAF1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V1345I 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 V1345I variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V1345I as strong candidate for a pathogenic variant
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV001027755 SCV000998773 likely pathogenic Intellectual disability, X-linked, syndromic 33 2019-09-23 no assertion criteria provided clinical testing

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