ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2198T>C (p.Leu733Pro)

dbSNP: rs1581760232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001863783 SCV002126257 uncertain significance Peroxisome biogenesis disorder 2022-10-05 criteria provided, single submitter clinical testing 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PEX6 protein function. ClinVar contains an entry for this variant (Variation ID: 1357307). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 733 of the PEX6 protein (p.Leu733Pro).
Breakthrough Genomics, Breakthrough Genomics RCV004693806 SCV005188981 uncertain significance not provided criteria provided, single submitter not provided

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