ClinVar Miner

Submissions for variant NM_018076.5(ODAD2):c.2800-2A>G

dbSNP: rs1297261096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699778 SCV000828504 pathogenic Primary ciliary dyskinesia 23 2023-10-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 18 of the ARMC4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ARMC4 are known to be pathogenic (PMID: 23849778). This variant is present in population databases (no rsID available, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with ARMC4-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 577105). 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.
Revvity Omics, Revvity RCV000699778 SCV002021431 likely pathogenic Primary ciliary dyskinesia 23 2020-04-23 criteria provided, single submitter clinical testing

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