Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000987442 | SCV001136732 | pathogenic | Congenital central hypoventilation | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002382222 | SCV002671259 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-11-16 | criteria provided, single submitter | clinical testing | The p.Ala241[25] pathogenic mutation, located in coding exon 3 of the PHOX2B gene, results from an expansion of the polyalanine repeat region from 20 to 25 repeats. This expansion mutation is associated with congenital central hypoventilation syndrome (Amiel J et al. Nat. Genet., 2003 Apr;33:459-61; Matera I et al. J. Med. Genet., 2004 May;41:373-80). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. |