ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.913-3C>T

gnomAD frequency: 0.00001  dbSNP: rs777570617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733630 SCV000861718 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
Invitae RCV002535341 SCV002941187 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-10 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the PEX10 gene. It does not directly change the encoded amino acid sequence of the PEX10 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD 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: 597492). 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 is not likely to affect RNA splicing. 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.
PreventionGenetics, part of Exact Sciences RCV003965541 SCV004783653 likely benign PEX10-related disorder 2022-11-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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