ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.207C>T (p.Ala69=)

gnomAD frequency: 0.00026  dbSNP: rs375516973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000404709 SCV000437329 uncertain significance Peroxisome biogenesis disorder 7A (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.
Eurofins Ntd Llc (ga) RCV000594003 SCV000705954 uncertain significance not provided 2017-01-27 criteria provided, single submitter clinical testing
Invitae RCV001080029 SCV001048380 likely benign Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2024-01-27 criteria provided, single submitter clinical testing

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