ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.572-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003447465 SCV004174853 likely pathogenic Mucolipidosis type II 2023-12-08 criteria provided, single submitter clinical testing A heterozygous 3’ splice site variant in intron 5 of the GNPTAB gene was detected. The observed variant has not been reported in the 1000 genomes and has a minor allele frequency of 0.0016% in the gnomAD database. The in-silico prediction of the variant is disease causing by MutationTaster2, DANN and SpliceAI. The reference base is conserved across mammals. In summary, the variant meets our criteria to be classified as likely pathogenic.

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