ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) (rs121434455)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000007949 SCV000220370 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2014-06-05 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000763597 SCV000894442 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Deafness enamel hypoplasia nail defects; Peroxisome biogenesis disorder 1B 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001248383 SCV001421866 uncertain significance Zellweger syndrome 2019-10-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 664 of the PEX1 protein (p.Leu664Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Zellweger syndrome (PMID: 9539740). 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: 7517). This variant has been reported to affect PEX1 protein function (PMID: 9539740, 11439091). 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.
OMIM RCV000007949 SCV000028154 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 1998-04-14 no assertion criteria provided literature only

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