ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)

gnomAD frequency: 0.00803  dbSNP: rs112822975
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242569 SCV000304417 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001507153 SCV001103266 benign Zellweger spectrum disorders 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000956500 SCV001324114 benign Peroxisome biogenesis disorder 1A (Zellweger) 2018-01-12 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.
GeneDx RCV001558457 SCV001780403 likely benign not provided 2021-06-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494711 SCV002798838 likely benign Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2021-07-15 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000242569 SCV001921720 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001558457 SCV001966619 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001507153 SCV002076904 benign Zellweger spectrum disorders 2017-05-11 no assertion criteria provided clinical testing

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