Submissions for variant NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)

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Minimum conflict level: Report conflict between different conditions

Total submissions: 4

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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	RCV001775755	SCV005089640	pathogenic	Mucopolysaccharidosis, MPS-II	2024-06-07	criteria provided, single submitter	literature only	Null variant (PVS1_Strong), In vitro or in vivo functional studies supportive of a damaging effect (PS3_Moderate), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Patient’s phenotype or family history highly specific for the disease (PP4_Strong)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001775755	SCV004299004	likely pathogenic	Mucopolysaccharidosis, MPS-II	2022-11-16	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln531*) in the IDS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acid(s) of the IDS protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type II (PMID: 7581397). ClinVar contains an entry for this variant (Variation ID: 285082). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects IDS function (PMID: 17091340). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Genome-Nilou Lab	RCV001775755	SCV002014462	pathogenic	Mucopolysaccharidosis, MPS-II	2021-09-05	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000359304	SCV000337945	pathogenic	not provided	2015-11-23	criteria provided, single submitter	clinical testing

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