ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.618del (p.Ser207fs)

dbSNP: rs587776626
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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 RCV002235061 SCV000955694 pathogenic Haddad syndrome 2022-01-24 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. Experimental studies have shown that this premature translational stop signal affects PHOX2B function (PMID: 15888479, 29098737). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 658418). This variant is also known as c.614_618delC. This premature translational stop signal has been observed in individual(s) with congenital central hypoventilation syndrome (PMID: 15121777). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser207Alafs*102) in the PHOX2B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 108 amino acid(s) of the PHOX2B protein.

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