ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.97G>T (p.Ala33Ser)

gnomAD frequency: 0.00002  dbSNP: rs1359119941
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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 RCV001323967 SCV001514904 uncertain significance DiGeorge syndrome 2020-07-07 criteria provided, single submitter clinical testing 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. This sequence change replaces alanine with serine at codon 24 of the TBX1 protein (p.Ala24Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with TBX1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.
Fulgent Genetics, Fulgent Genetics RCV005023044 SCV005656695 uncertain significance Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 2024-06-11 criteria provided, single submitter clinical testing

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