ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1993A>G (p.Met665Val)

dbSNP: rs1388932284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555115 SCV000641868 benign Mowat-Wilson syndrome 2019-03-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316556 SCV000850631 uncertain significance Inborn genetic diseases 2017-04-24 criteria provided, single submitter clinical testing The p.M665V variant (also known as c.1993A>G), located in coding exon 7 of the ZEB2 gene, results from an A to G substitution at nucleotide position 1993. The methionine at codon 665 is replaced by valine, an amino acid with highly similar 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.
Genome-Nilou Lab RCV000555115 SCV002045595 likely benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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