ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs)

dbSNP: rs1733878065
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003151706 SCV003840674 pathogenic not provided 2023-03-10 criteria provided, single submitter clinical testing Frameshift variant in the C-terminus predicted to cause a protein extension as the last 74 amino acids are replaced with 105 incorrect amino acids; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 15888479, 19191321, 15121777, 18157832, 12640453)
PreventionGenetics, part of Exact Sciences RCV003415666 SCV004117842 pathogenic PHOX2B-related disorder 2023-03-14 criteria provided, single submitter clinical testing The PHOX2B c.722_759del38 variant is predicted to result in a frameshift and premature protein termination (p.Ala241Glyfs*106). This variant has previously been reported to be causative for congenital central hypoventilation syndrome (CCHS) and tumors of the sympathetic nervous system (Amiel et al. 2003. PubMed ID: 12640453; Trochet et al. 2005. PubMed ID: 16249188; Trochet et al. 2009. PubMed ID: 19058226; Di Lascio et al. 2018. PubMed ID: 29098737). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), and is interpreted as Pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/6010/). Frameshift variants in PHOX2B are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000006381 SCV000026563 pathogenic Congenital central hypoventilation 2003-04-01 no assertion criteria provided literature only

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