ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del) (rs267608184)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671986 SCV000797035 likely pathogenic Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A 2018-01-09 criteria provided, single submitter clinical testing
Invitae RCV001378694 SCV001576320 likely pathogenic Peroxisome biogenesis disorder 3A 2020-01-30 criteria provided, single submitter clinical testing This variant, c.1047_1049del, results in the deletion of 1 amino acid(s) of the PEX12 protein (p.Gln349del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with PEX12-related conditions (PMID: 15542397, 21031596, Invitae). ClinVar contains an entry for this variant (Variation ID: 556045). 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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