ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1006+1G>A

dbSNP: rs869025308
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001291939 SCV001480479 pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001291939 SCV001622389 pathogenic Mucopolysaccharidosis, MPS-II 2021-03-18 criteria provided, single submitter clinical testing A hemizygous 3’ splice site variation in intron 7 of the IDS gene that affects the invariant AG acceptor splice site upstream of exon 8 was detected. The observed variant c.1006+1G>A has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is damaging by MutationTaster and DANN. In summary, the variant meets our criteria to be classified as pathogenic.
Genome-Nilou Lab RCV001291939 SCV002014473 pathogenic Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001291939 SCV005089356 pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_VeryStrong), Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Supporting), 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)
Pediatrics, All India Institute of Medical Sciences, New Delhi RCV001291939 SCV001573799 affects Mucopolysaccharidosis, MPS-II 2014-04-11 no assertion criteria provided research The change c.1006+1G>A is a known splice donor variant. This mutation was due to the substitution of G to A at nucleotide position c.1006+1 in the intron 7 of IDS gene. It was detected in a hemizygous state in one of the patient with severe phenotype from Bihar. It was also reported in databases dbSNP (rs869025308) and HGMD (CX931238).

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