ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.736_747+17del (rs1057517257)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409579 SCV000486997 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2016-09-20 criteria provided, single submitter clinical testing
Invitae RCV000813677 SCV000954046 likely pathogenic Peroxisome biogenesis disorder 9B 2018-11-07 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 7 (c.736_747+17del) of the PEX7 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PEX7-related disease. ClinVar contains an entry for this variant (Variation ID: 371420). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 20301447). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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