ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1879G>A (p.Val627Ile)

dbSNP: rs1703275164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224373 SCV001396563 benign Mowat-Wilson syndrome 2022-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411829 SCV002722388 uncertain significance Inborn genetic diseases 2018-05-14 criteria provided, single submitter clinical testing The p.V627I variant (also known as c.1879G>A), located in coding exon 7 of the ZEB2 gene, results from a G to A substitution at nucleotide position 1879. The valine at codon 627 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine 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.

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