ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.551del (p.Ile184fs)

dbSNP: rs1557910202
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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 RCV000778225 SCV000914393 uncertain significance Peroxisome biogenesis disorder 6A (Zellweger) 2018-11-30 criteria provided, single submitter clinical testing This variant results in a frameshift and is predicted to result in premature termination of the protein. It was observed by ICSL 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 for this variant, it 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 and cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for this disease.
Invitae RCV001382724 SCV001581627 pathogenic Peroxisome biogenesis disorder, complementation group 7 2020-05-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PEX10 are known to be pathogenic (PMID: 9683594, 10862081, 21031596). This variant has not been reported in the literature in individuals with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 631594). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile184Thrfs*20) in the PEX10 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV000778225 SCV004201406 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger) 2023-06-23 criteria provided, single submitter clinical testing

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