ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.188G>T (p.Gly63Val)

dbSNP: rs2153113046
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238466 SCV002010000 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003375361 SCV004096217 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-02 criteria provided, single submitter clinical testing The p.G63V variant (also known as c.188G>T), located in coding exon 1 of the PHOX2B gene, results from a G to T substitution at nucleotide position 188. The glycine at codon 63 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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