ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.661C>G (p.Leu221Val)

gnomAD frequency: 0.00005  dbSNP: rs192034592
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041897 SCV001205548 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 221 of the PEX13 protein (p.Leu221Val). This variant is present in population databases (rs192034592, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. ClinVar contains an entry for this variant (Variation ID: 840010). 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 PEX13 protein function with a negative predictive value of 80%. 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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