ClinVar Miner

Submissions for variant NM_002857.3(PEX19):c.362C>T (p.Ser121Phe) (rs1557854775)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699212 SCV000827912 uncertain significance Peroxisome biogenesis disorder 12A 2018-05-24 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 121 of the PEX19 protein (p.Ser121Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PEX19-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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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