ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.1490-2A>G

gnomAD frequency: 0.00002  dbSNP: rs775831317
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001378338 SCV001575883 likely pathogenic Primary ciliary dyskinesia 2023-08-03 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1067153). This variant has not been reported in the literature in individuals affected with DNAI1-related conditions. This variant is present in population databases (rs775831317, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 15 of the DNAI1 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 DNAI1 are known to be pathogenic (PMID: 16858015, 29363216).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796617 SCV005417572 likely pathogenic Kartagener syndrome criteria provided, single submitter clinical testing PVS1+PM2_Supporting
Fulgent Genetics, Fulgent Genetics RCV004796617 SCV005675382 likely pathogenic Kartagener syndrome 2024-05-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580155 SCV001809800 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001580155 SCV001953439 pathogenic not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001378338 SCV002085166 likely pathogenic Primary ciliary dyskinesia 2021-02-11 no assertion criteria provided clinical testing

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