ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.468A>G (p.Gln156=)

dbSNP: rs149729088
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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) RCV000271066 SCV000337837 likely benign not specified 2015-12-09 criteria provided, single submitter clinical testing
Invitae RCV001507194 SCV000629756 benign Zellweger spectrum disorders 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000543039 SCV001322478 uncertain significance 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, 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.
CeGaT Center for Human Genetics Tuebingen RCV003437049 SCV004164306 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing PEX1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003940002 SCV004747496 benign PEX1-related disorder 2023-03-06 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. RCV001507194 SCV002079347 likely benign Zellweger spectrum disorders 2017-05-12 no assertion criteria provided clinical testing

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