ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu)

gnomAD frequency: 0.00004  dbSNP: rs757254854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035739 SCV001199074 uncertain significance Peroxisome biogenesis disorder 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 975 of the PEX6 protein (p.Arg975Leu). This variant is present in population databases (rs757254854, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 834949). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX6 protein function with a negative predictive value of 95%. 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.
Natera, Inc. RCV001274619 SCV001458944 uncertain significance Zellweger spectrum disorders 2020-09-16 no assertion criteria provided clinical testing

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