ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.479_480dup (p.Ala161fs)

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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 RCV003635196 SCV004446236 pathogenic Haddad syndrome 2023-03-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PHOX2B protein in which other variant(s) (p.Gly234Alafs*78) have been determined to be pathogenic (PMID: 15657873, 17637745, 26375764, 29696799, 30092902). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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.Ala161Argfs*149) in the PHOX2B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 154 amino acid(s) of the PHOX2B protein.

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