ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter)

dbSNP: rs104894379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000008463 SCV004041301 pathogenic Holt-Oram syndrome 2023-03-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003398470 SCV004105011 likely pathogenic TBX5-related disorder 2023-07-03 criteria provided, single submitter clinical testing The TBX5 c.408C>A variant is predicted to result in premature protein termination (p.Tyr136*). This variant was reported in the heterozygous state in multiple individuals with Holt-Oram syndrome (Gruenauer-Kloevekorn et al 2003. PubMed ID: 12818525; Gruenauer-Kloevekorn et al 2005. PubMed ID: 15823919). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in TBX5 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
OMIM RCV000008463 SCV000028671 pathogenic Holt-Oram syndrome 2003-01-01 no assertion criteria provided literature only

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