ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.934A>G (p.Ile312Val)

gnomAD frequency: 0.00223  dbSNP: rs146312634
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000344496 SCV000336207 likely benign not specified 2015-10-20 criteria provided, single submitter clinical testing
Invitae RCV001420988 SCV001105192 likely benign Zellweger spectrum disorders 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000958357 SCV001321001 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV003437048 SCV004164305 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing PEX1: BP4
PreventionGenetics, part of Exact Sciences RCV003955455 SCV004775190 benign PEX1-related condition 2019-09-11 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001420988 SCV002079324 likely benign Zellweger spectrum disorders 2017-05-10 no assertion criteria provided clinical testing

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