ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.965T>A (p.Val322Glu)

gnomAD frequency: 0.00271  dbSNP: rs76722191
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674701 SCV000800087 likely benign Hurler syndrome 2018-05-22 criteria provided, single submitter clinical testing
Invitae RCV000208612 SCV000932848 other Mucopolysaccharidosis type 1 2018-08-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000208612 SCV001319810 benign Mucopolysaccharidosis type 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Ambry Genetics RCV004020565 SCV004885449 likely benign Inborn genetic diseases 2021-11-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneReviews RCV000208612 SCV000264374 not provided Mucopolysaccharidosis type 1 no assertion provided literature only Pseudodeficiency variants

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