ClinVar Miner

Submissions for variant NM_005996.4(TBX3):c.1271C>T (p.Ser424Phe)

gnomAD frequency: 0.00001  dbSNP: rs1450439762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001653060 SCV001871189 likely benign not provided 2021-08-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
PreventionGenetics, part of Exact Sciences RCV003405743 SCV004106464 uncertain significance TBX3-related disorder 2024-02-14 no assertion criteria provided clinical testing The TBX3 c.1331C>T variant is predicted to result in the amino acid substitution p.Ser444Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0021% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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