ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter)

dbSNP: rs2124065847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001375631 SCV005089593 pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_VeryStrong), 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 RCV001375631 SCV001572556 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-02-01 no assertion criteria provided research The change c.205_206insAAACTGGCAT, (p.S69*fs) was found to be a novel small frame-shift insertion, where a 10 base insertion leads to frameshift change in the ORF of the translated peptide leading to substitution of a hydroxyl-containing polar neutral amino acid Serine at 69 position by a stop codon leading to truncation of the protein. It was detected in hemizygous state in two of the severely affected sibs in a family from Uttrakhand state of India.

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