ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)

gnomAD frequency: 0.00002  dbSNP: rs267608230
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248070 SCV001421535 uncertain significance Peroxisome biogenesis disorder 2022-01-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 664 of the PEX6 protein (p.Glu664Asp). This variant is present in population databases (rs267608230, gnomAD 0.02%). This missense change has been observed in individual(s) with Zellweger Syndrome Spectrum (PMID: 19877282, 26287655). ClinVar contains an entry for this variant (Variation ID: 972112). 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV002480855 SCV002782887 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 2021-10-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473835 SCV004201540 likely pathogenic Heimler syndrome 2 2023-09-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836248 SCV002077289 uncertain significance Zellweger spectrum disorders 2020-03-06 no assertion criteria provided clinical testing

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