ClinVar Miner

Submissions for variant NM_001109878.2(TBX22):c.592C>T (p.Arg198Cys)

dbSNP: rs776905471
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272776 SCV002556964 uncertain significance Cleft palate with or without ankyloglossia, X-linked 2020-10-29 criteria provided, single submitter clinical testing The TBX22 c.592C>T missense variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE (PM2, PP3) The TBX22 c.592C>T missense variant is a single nucleotide change in exon 4 of the TBX22 gene, which is predicted to change the amino acid arginine at position 198 in the protein to cysteine. This variant has not been reported in dbSNP and is absent from population databases (PM2). This variant has not been reported in the ClinVar of HGMD disease databases. Computational predictions support a deleterious effect on the gene or gene product (PP3).

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