ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) (rs35996821)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000117900 SCV000304419 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288096 SCV000470514 benign Peroxisome biogenesis disorder 1A (Zellweger) 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
SIB Swiss Institute of Bioinformatics RCV000288096 SCV000803438 benign Peroxisome biogenesis disorder 1A (Zellweger) 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for Peroxisome biogenesis disorder 1A (Zellweger), in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BA1 => Allele frequency is >2% in Exome Aggregation Consortium (in some populations allele frequency is >4%). BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Athena Diagnostics Inc RCV000992519 SCV001144899 benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117900 SCV000152174 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.

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