ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)

gnomAD frequency: 0.00055  dbSNP: rs144825021
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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) RCV000078924 SCV000110784 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368382 SCV000470504 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.
Invitae RCV001277303 SCV001060450 benign Zellweger spectrum disorders 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935024 SCV004748819 benign PEX1-related disorder 2019-05-29 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).
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252811 SCV001163954 uncertain significance Microcephaly no assertion criteria provided research
Natera, Inc. RCV001277303 SCV001464244 likely benign Zellweger spectrum disorders 2020-05-30 no assertion criteria provided clinical testing

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