ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu)

gnomAD frequency: 0.00020  dbSNP: rs746812421
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990374 SCV001141331 uncertain significance DiGeorge syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000990374 SCV001199572 uncertain significance DiGeorge syndrome 2024-12-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 396 of the TBX1 protein (p.Pro396Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of TXB1-related conditions (PMID: 11748311). ClinVar contains an entry for this variant (Variation ID: 803643). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genetic Services Laboratory, University of Chicago RCV001819695 SCV002070725 uncertain significance not specified 2019-05-08 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002221596 SCV002499081 uncertain significance not provided 2022-02-28 criteria provided, single submitter clinical testing BP4
Fulgent Genetics, Fulgent Genetics RCV002497283 SCV002814007 uncertain significance Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 2021-07-28 criteria provided, single submitter clinical testing

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