ClinVar Miner

Submissions for variant NM_018076.5(ODAD2):c.1969C>T (p.Gln657Ter)

gnomAD frequency: 0.00001  dbSNP: rs868755574
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000234900 SCV000291985 pathogenic Primary ciliary dyskinesia 23 2013-04-03 criteria provided, single submitter research This compound heterzygous mutation was predicted to be loss-of-function.
Labcorp Genetics (formerly Invitae), Labcorp RCV000234900 SCV000773647 pathogenic Primary ciliary dyskinesia 23 2024-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln657*) in the ARMC4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARMC4 are known to be pathogenic (PMID: 23849778). This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 23849778). ClinVar contains an entry for this variant (Variation ID: 242858). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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