ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1082C>T (p.Pro361Leu)

gnomAD frequency: 0.00005  dbSNP: rs1001921296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695042 SCV000823517 uncertain significance DiGeorge syndrome 2024-10-09 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 352 of the TBX1 protein (p.Pro352Leu). This variant is present in population databases (no rsID available, gnomAD 0.02%). This missense change has been observed in individual(s) with TBX1-related conditions (internal data). This missense change has been observed in at least one individual who was not affected with TBX1-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 573382). 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 tolerated. 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.
GeneDx RCV001756199 SCV001985188 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31428446)

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