Submissions for variant NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe)

dbSNP: rs1057518019

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000413668	SCV000491372	likely pathogenic	not provided	2016-02-22	criteria provided, single submitter	clinical testing	The S985F variant in the TAF1 gene has not been reported previously as a pathogenic variant, nor asa benign variant, to our knowledge. The S985F variant was not observed in approximately 6300individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The S985F variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure asthese residues differ in polarity, charge, size and/or other properties. This substitution occurs at aposition that is conserved across species and in silico analysis predicts this variant is probablydamaging to the protein structure/function. The S985F variant is a strong candidate for a pathogenic variant.
Genome Medicine, Institute for Basic Research in Developmental Disabilities	RCV001027752	SCV000998769	likely pathogenic	Intellectual disability, X-linked, syndromic 33	2019-09-23	no assertion criteria provided	clinical testing
Yale Center for Mendelian Genomics, Yale University	RCV001849367	SCV002106731	association	Heart, malformation of	2020-06-13	no assertion criteria provided	literature only