ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)

gnomAD frequency: 0.00128  dbSNP: rs149606212
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550006 SCV000629762 other Mucopolysaccharidosis type 7 2018-01-17 criteria provided, single submitter clinical testing This variant is a known pseudodeficiency allele (PMID: 7573038, 19224584). Individuals with this variant can exhibit low beta-glucuronidase activity during enzyme analysis; however, it has been observed as homozygous in population databases and in individuals who did not have clinical evidence of muccopolysacchariduria (PMID: 7573038, 9490302). For these reasons, this variant has been classified as Benign (Pseudodeficiency allele).
Fulgent Genetics, Fulgent Genetics RCV000550006 SCV000897392 uncertain significance Mucopolysaccharidosis type 7 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV000550006 SCV001137379 uncertain significance Mucopolysaccharidosis type 7 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000550006 SCV001322683 uncertain significance Mucopolysaccharidosis type 7 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV001726216 SCV001962044 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
GeneDx RCV001726216 SCV004035596 benign not provided 2021-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19224584, 7573038, 9490302, 34426522)
Mayo Clinic Laboratories, Mayo Clinic RCV001726216 SCV005409259 uncertain significance not provided 2024-06-07 criteria provided, single submitter clinical testing BS1, PP3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252504 SCV001428261 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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