ClinVar Miner

Submissions for variant NM_003924.3(PHOX2B):c.729_749dup (p.Ala254_Ala260dup) (rs772448418)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000603415 SCV000713703 pathogenic Congenital central hypoventilation 2017-10-02 criteria provided, single submitter clinical testing The p.Ala241[27] variant in PHOX2B is a well-established pathogenic variant for CCHS, which has been reported in >200 affected individuals across multiple studi es (Weese-Mayer 2010). This variant is a 21bp duplication within a polyalanine t ract in exon 3 of the PHOX2B gene, resulting in an expansion to a total of 27 al anine residues. It frequently occurs de novo, though autosomal dominant inherita nce and somatic mosaicism have also been reported. In summary, this variant meet s our criteria to be classified as pathogenic for CCHS in an autosomal dominant manner.

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