ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.708+1G>A

dbSNP: rs864622778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IIFP, CONICET-UNLP RCV000204551 SCV000262539 pathogenic Mucopolysaccharidosis, MPS-II 2011-12-07 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000204551 SCV002234986 pathogenic Mucopolysaccharidosis, MPS-II 2021-10-07 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant is associated with skipping of exon 5 but is expected to preserve the integrity of the reading frame (PMID: 27896113). Experimental studies have shown that disruption of this splice site affects IDS protein function (PMID: 31877959). Disruption of this splice site has been observed in individual(s) with clinical features of mucopolysaccharidosis type II (PMID: 27896113, 27246110, 31877959, 9875019). ClinVar contains an entry for this variant (Variation ID: 221221). This sequence change affects a donor splice site in intron 5 of the IDS gene. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000204551 SCV005089199 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_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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