ClinVar Miner

Submissions for variant NM_002857.4(PEX19):c.-4C>T

gnomAD frequency: 0.00053  dbSNP: rs201541204
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283780 SCV000350084 uncertain significance Peroxisome biogenesis disorder 12A (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) RCV000592505 SCV000707774 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000283780 SCV002794275 uncertain significance Peroxisome biogenesis disorder 12A (Zellweger) 2021-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004739665 SCV005352260 uncertain significance PEX19-related disorder 2024-05-20 no assertion criteria provided clinical testing The PEX19 c.-4C>T variant is located in the 5' untranslated region. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.11% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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