ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.1325G>C (p.Arg442Pro) (rs755937050)

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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 RCV000620652 SCV000735639 uncertain significance Cardiovascular phenotype 2017-07-12 criteria provided, single submitter clinical testing The p.R442P variant (also known as c.1325G>C), located in coding exon 8 of the TBX1 gene, results from a G to C substitution at nucleotide position 1325. The arginine at codon 442 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000876591 SCV001019182 likely benign DiGeorge Syndrome 2019-12-31 criteria provided, single submitter clinical testing

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