ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) (rs771063294)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702969 SCV000831846 uncertain significance Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2018-04-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 437 of the PEX6 protein (p.Gly437Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PEX6-related disease. 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: "Tolerated"; 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728099 SCV000855632 uncertain significance not provided 2017-07-07 criteria provided, single submitter clinical testing

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