ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.614C>G (p.Thr205Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003380106 SCV004096207 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-20 criteria provided, single submitter clinical testing The p.T205S variant (also known as c.614C>G), located in coding exon 3 of the PHOX2B gene, results from a C to G substitution at nucleotide position 614. The threonine at codon 205 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.
Baylor Genetics RCV003475571 SCV004203988 uncertain significance Neuroblastoma, susceptibility to, 2 2023-06-25 criteria provided, single submitter clinical testing

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