ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.438-5C>A

dbSNP: rs972035685
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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 RCV001316299 SCV001506908 uncertain significance DiGeorge syndrome 2023-02-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TBX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the TBX1 gene. It does not directly change the encoded amino acid sequence of the TBX1 protein. ClinVar contains an entry for this variant (Variation ID: 1017185). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
PreventionGenetics, part of Exact Sciences RCV003399092 SCV004104381 uncertain significance TBX1-related disorder 2023-08-13 criteria provided, single submitter clinical testing The TBX1 c.411-5C>A variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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