ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser)

dbSNP: rs1936852709
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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 RCV001217144 SCV001388977 uncertain significance DiGeorge syndrome 2023-08-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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. ClinVar contains an entry for this variant (Variation ID: 946302). This variant has not been reported in the literature in individuals affected with TBX1-related conditions. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 384 of the TBX1 protein (p.Pro384Ser).
Ambry Genetics RCV003294046 SCV003997247 uncertain significance Cardiovascular phenotype 2023-03-16 criteria provided, single submitter clinical testing The p.P384S variant (also known as c.1150C>T), located in coding exon 8 of the TBX1 gene, results from a C to T substitution at nucleotide position 1150. The proline at codon 384 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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.

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