ClinVar Miner

Submissions for variant NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys)

gnomAD frequency: 0.00008  dbSNP: rs534089911
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001007566 SCV001426220 uncertain significance Beck-Fahrner syndrome 2020-07-22 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Beck-Fahrner syndrome, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); For recessive disorders, detected in trans with a (likely)pathogenic variant (PM3).
Ambry Genetics RCV004030286 SCV004964555 uncertain significance Inborn genetic diseases 2021-12-16 criteria provided, single submitter clinical testing The c.1849C>T (p.R617C) alteration is located in exon 1 (coding exon 1) of the TET3 gene. This alteration results from a C to T substitution at nucleotide position 1849, causing the arginine (R) at amino acid position 617 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
OMIM RCV001007566 SCV001167187 pathogenic Beck-Fahrner syndrome 2020-06-16 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001257922 SCV001434731 likely pathogenic TET3 deficiency no assertion criteria provided research

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