ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1211C>T (p.Thr404Ile)

gnomAD frequency: 0.00002  dbSNP: rs751774861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001970646 SCV002248510 uncertain significance Peroxisome biogenesis disorder 2B 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 404 of the PEX5 protein (p.Thr404Ile). This variant is present in population databases (rs751774861, gnomAD 0.01%). 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: 1468397). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002571236 SCV003641861 uncertain significance Inborn genetic diseases 2022-08-26 criteria provided, single submitter clinical testing The c.1211C>T (p.T404I) alteration is located in exon 13 (coding exon 12) of the PEX5 gene. This alteration results from a C to T substitution at nucleotide position 1211, causing the threonine (T) at amino acid position 404 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481227 SCV004226304 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing PM2

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