ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.220C>T (p.Gln74Ter)

dbSNP: rs1297909281
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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 RCV002234538 SCV000765637 pathogenic Haddad syndrome 2018-02-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln74*) in the PHOX2B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PHOX2B-related disease. Loss-of-function variants in PHOX2B are known to be pathogenic (PMID: 25156769).

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