ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2633_2635TGT[1] (p.Leu879del) (rs886043984)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000322197 SCV000342896 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
Counsyl RCV000672469 SCV000797575 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2018-02-05 criteria provided, single submitter clinical testing
Invitae RCV001222626 SCV001394735 uncertain significance Zellweger syndrome 2019-10-16 criteria provided, single submitter clinical testing This variant, c.2636_2638del, results in the deletion of 1 amino acid(s) of the PEX1 protein (p.Leu879del), 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 individuals affected with Zellweger spectrum disorder (PMID: 21031596, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 288706). 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.

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