Submissions for variant NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys)

dbSNP: rs1602506017

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001270906	SCV001451687	likely pathogenic	TAF1-related syndromic intellectual disability	2019-07-18	criteria provided, single submitter	clinical testing	The TAF1 c.2668C>T (p.Arg890Cys) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. The Arg890 residue is in the DUF3591 central domain, which encompasses the histone acetyl transferase (HAT) domain (O'Rawe et al. 2015). Based on the de novo nature of the variant and absence from population allele frequency databases, the p.Arg890Cys variant is classified as likely pathogenic for TAF1-related syndromic intellectual disability.
Genome Medicine, Institute for Basic Research in Developmental Disabilities	RCV001027750	SCV000998767	likely pathogenic	Intellectual disability, X-linked, syndromic 33	2019-09-23	no assertion criteria provided	clinical testing
Yale Center for Mendelian Genomics, Yale University	RCV001849457	SCV002106728	association	Heart, malformation of	2020-06-13	no assertion criteria provided	literature only