ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.478G>C (p.Ala160Pro)

dbSNP: rs1559035602
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705053 SCV000834033 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2017-12-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 160 of the PEX13 protein (p.Ala160Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. 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. 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"). This variant has not been reported in the literature in individuals with PEX13-related disease. This variant is not present in population databases (ExAC no frequency).

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