ClinVar Miner

Submissions for variant NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)

gnomAD frequency: 0.00002  dbSNP: rs374993554
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000241535 SCV001368673 likely pathogenic Alazami-Yuan syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3. This variant was detected in homozygous state.
Ambry Genetics RCV001267168 SCV001445349 pathogenic Inborn genetic diseases 2016-01-04 criteria provided, single submitter clinical testing
GeneDx RCV003223614 SCV003919667 likely pathogenic not provided 2023-04-19 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect in a Drosophila cell line with this variant (Yuan et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed with a second TAF6 variant on the opposite allele (in trans) in a patient referred for genetic testing at GeneDx; This variant is associated with the following publications: (PMID: 25574841, 26633546, 25558065, 25363768, 32030742, 11295558, 35317131, 31785789, 34803598)
Revvity Omics, Revvity RCV000241535 SCV004238750 likely pathogenic Alazami-Yuan syndrome 2023-02-18 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000241535 SCV004805077 pathogenic Alazami-Yuan syndrome 2024-03-17 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000157055 SCV000195852 pathogenic Syndromic intellectual disability 2014-12-02 no assertion criteria provided research
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000162155 SCV000196441 likely pathogenic Global developmental delay; Abnormal facial shape 2014-12-01 no assertion criteria provided research
OMIM RCV000241535 SCV000301460 pathogenic Alazami-Yuan syndrome 2015-02-01 no assertion criteria provided literature only

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