ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup)

dbSNP: rs775006915
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Total submissions: 2
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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.

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