ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.508-1G>A

dbSNP: rs113993947
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IIFP, CONICET-UNLP RCV000206667 SCV000262538 pathogenic Mucopolysaccharidosis, MPS-II 2007-05-16 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000206667 SCV001585428 pathogenic Mucopolysaccharidosis, MPS-II 2023-06-10 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individuals with IDS-related conditions (PMID: 26762690, 27896113). For these reasons, this variant has been classified as 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: 221220). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 4 of the IDS 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 IDS are known to be pathogenic (PMID: 8940265, 9875019).
Genome-Nilou Lab RCV000206667 SCV002014479 pathogenic Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000206667 SCV005089109 pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_Strong), De novo (PS2_Strong), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Patient’s phenotype or family history highly specific for the disease (PP4_Moderate)

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