ClinVar Miner

Submissions for variant NM_139315.3(TAF6):c.1629_1632dup (p.Ser545fs)

dbSNP: rs1796720731
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797913 SCV002041689 uncertain significance not specified 2021-11-15 criteria provided, single submitter clinical testing Variant summary: TAF6 c.1629_1632dupGTCC (p.Ser545ValfsX194) causes a frameshift which results in an extension of the protein. The variant was absent in 250064 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1629_1632dupGTCC in individuals affected with Alazami-Yuan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Also, to our knowledge, no pathogenic variants downstream of the new stop codon have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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