ClinVar Miner

Submissions for variant NM_003200.5(TCF3):c.307G>A (p.Gly103Ser)

gnomAD frequency: 0.00037  dbSNP: rs201841190
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000905107 SCV001049672 likely benign not provided 2024-01-14 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027849 SCV001190473 uncertain significance Agammaglobulinemia 8, autosomal dominant 2019-11-19 criteria provided, single submitter clinical testing TCF3 NM_003200.3 exon 6 p.Gly103Ser (c.307G>A): This variant has not been reported in the literature but is present in 0.2% (59/19784) of East Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/19-1627417-C-T?dataset=gnomad_r2_1). This variant amino acid Serine (Ser) is present in >20 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224490 SCV003920540 uncertain significance Agammaglobulinemia 8, autosomal dominant; Agammaglobulinemia 8b, autosomal recessive 2021-03-30 criteria provided, single submitter clinical testing TCF3 NM_003200.3 exon 6 p.Gly103Ser (c.307G>A): This variant has not been reported in the literature but is present in 0.2% (59/19784) of East Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/19-1627417-C-T?dataset=gnomad_r2_1). This variant amino acid Serine (Ser) is present in >20 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.