ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.913-2A>C

gnomAD frequency: 0.00001  dbSNP: rs758250423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671708 SCV000796712 uncertain significance Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 2017-12-22 criteria provided, single submitter clinical testing
Invitae RCV001855565 SCV002262682 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2021-10-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the PEX10 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 555812). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003472141 SCV004203405 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger) 2024-01-23 criteria provided, single submitter clinical testing

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