ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) (rs954814470)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669293 SCV000794033 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2017-11-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729582 SCV000857255 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing
Invitae RCV000669293 SCV001204911 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2020-01-08 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 1026 of the PEX1 protein (p.Leu1026Pro). 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 spectrum disorders (PMID: 28446956). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 553776). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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