ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) (rs7637099)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078711 SCV000110571 benign not specified 2017-08-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078711 SCV000304047 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340960 SCV000443199 benign GM1 gangliosidosis 2017-04-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000402607 SCV000443200 benign Mucopolysaccharidosis, MPS-IV-B 2017-04-27 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590040 SCV000696687 benign not provided 2016-05-25 criteria provided, single submitter clinical testing Variant summary: The c.29C>T (p.Pro10Leu) is a missense variant involves a non-conserved nucleotide and 4/5 in silico tools predict benign outcome. The variant is present in the control population dataset of ExAC at a frequency of 0.562 (66755/118674) which greatly exceeds the maximal expected allele frequency for a non-common pathogenic GLB1 variant (0.0009). Diagnostics centers and several published reports classified this variant as Likely Benign and Benign. Taken all together, the variant was classified as Benign.
Invitae RCV001511462 SCV001718707 benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2020-11-26 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527573 SCV001738666 benign Infantile GM1 gangliosidosis 2021-06-15 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000402607 SCV001738667 benign Mucopolysaccharidosis, MPS-IV-B 2021-06-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078711 SCV000151304 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000590040 SCV000801397 benign not provided 2015-10-20 no assertion criteria provided clinical testing
GenomeConnect - GM1 RCV000590040 SCV001338911 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported most recently on 08-10-2017 by Lab or GTR ID 239772. GenomeConnect-GM1 assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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