ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1587+5T>C

gnomAD frequency: 0.00011  dbSNP: rs199526105
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000730939 SCV000576503 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Eurofins Ntd Llc (ga) RCV000730939 SCV000858706 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001162173 SCV001324112 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001277308 SCV002472623 likely benign Zellweger spectrum disorders 2024-01-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000730939 SCV004224043 uncertain significance not provided 2022-03-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277308 SCV001464249 uncertain significance Zellweger spectrum disorders 2018-03-26 no assertion criteria provided clinical testing

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