ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.901C>T (p.Arg301Trp)

gnomAD frequency: 0.00002  dbSNP: rs767306549
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332880 SCV001525320 uncertain significance Peroxisome biogenesis disorder 2B 2020-11-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332880 SCV001555626 uncertain significance Peroxisome biogenesis disorder 2B 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 301 of the PEX5 protein (p.Arg301Trp). This variant is present in population databases (rs767306549, 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: 1031131). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV003169557 SCV003880207 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.901C>T (p.R301W) alteration is located in exon 10 (coding exon 9) of the PEX5 gene. This alteration results from a C to T substitution at nucleotide position 901, causing the arginine (R) at amino acid position 301 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003898316 SCV004712635 uncertain significance PEX5-related disorder 2024-02-19 no assertion criteria provided clinical testing The PEX5 c.901C>T variant is predicted to result in the amino acid substitution p.Arg301Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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