ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.195C>A (p.Cys65Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003635286 SCV004449120 pathogenic Haddad syndrome 2023-04-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PHOX2B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys65*) in the PHOX2B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHOX2B are known to be pathogenic (PMID: 25156769).

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