ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) (rs1473858573)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633315 SCV000754534 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2018-01-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 1237 of the PEX1 protein (p.Ala1237Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Zellweger syndrome spectrum (PMID: 19105186). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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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