ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.222-2A>C

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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 RCV005226647 SCV005867660 likely pathogenic Sengers syndrome; Cataract 38 2024-03-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 of the AGK 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 AGK are known to be pathogenic (PMID: 22284826). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AGK-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005226647 SCV006056716 likely pathogenic Sengers syndrome; Cataract 38 2023-05-10 criteria provided, single submitter research

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