ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1897A>C (p.Thr633Pro)

gnomAD frequency: 0.00013  dbSNP: rs200471952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728630 SCV000856229 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001058808 SCV001223404 uncertain significance Peroxisome biogenesis disorder 2B 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 633 of the PEX5 protein (p.Thr633Pro). This variant is present in population databases (rs200471952, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 593551). 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 PEX5 protein function. 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.
Ambry Genetics RCV002535082 SCV003728923 uncertain significance Inborn genetic diseases 2021-06-23 criteria provided, single submitter clinical testing The c.1897A>C (p.T633P) alteration is located in exon 16 (coding exon 15) of the PEX5 gene. This alteration results from a A to C substitution at nucleotide position 1897, causing the threonine (T) at amino acid position 633 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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