ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.966+5G>A

gnomAD frequency: 0.00005  dbSNP: rs199705127
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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) RCV000079507 SCV000111389 uncertain significance not provided 2013-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854403 SCV002207297 uncertain significance Peroxisome biogenesis disorder 2B 2023-10-03 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the PEX5 gene. It does not directly change the encoded amino acid sequence of the PEX5 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs199705127, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 93583). 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.
GeneDx RCV000079507 SCV005327257 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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