ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.5575-1G>A

dbSNP: rs1750049152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001291554 SCV001480079 likely pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Invitae RCV003497920 SCV004293705 likely pathogenic Cornelia de Lange syndrome 1 2023-09-17 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. Studies have shown that disruption of this splice site is associated with altered splicing resulting in unknown protein product impact (PMID: 24918291). ClinVar contains an entry for this variant (Variation ID: 996772). Disruption of this splice site has been observed in individuals with Cornelia de Lange syndrome (PMID: 24918291; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 29 of the NIPBL 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 NIPBL are known to be pathogenic (PMID: 15318302, 19763162, 23505322, 29995837).

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