ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.1132G>A (p.Gly378Ser) (rs565927787)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621315 SCV000736355 uncertain significance Cardiovascular phenotype 2016-11-01 criteria provided, single submitter clinical testing The p.G378S variant (also known as c.1132G>A), located in coding exon 8 of the TBX1 gene, results from a G to A substitution at nucleotide position 1132. The glycine at codon 378 is replaced by serine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as ​rs565927787. Based on data from gnomAD, the A allele was reported in 38 of 8454 (0.43%) African alleles (Lek M et al. Nature. 2016;17;536(7616):285-91). This amino acid position is not well conserved on limited sequence alignment, and serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000877083 SCV001019756 likely benign DiGeorge Syndrome 2019-12-31 criteria provided, single submitter clinical testing

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