ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1271T>C (p.Ile424Thr)

gnomAD frequency: 0.00004  dbSNP: rs201807430
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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) RCV000592783 SCV000704773 uncertain significance not provided 2018-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001867953 SCV002177727 uncertain significance Zellweger spectrum disorders 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 424 of the PEX1 protein (p.Ile424Thr). This variant is present in population databases (rs201807430, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 499334). 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 RCV004955688 SCV005468260 uncertain significance Inborn genetic diseases 2024-07-30 criteria provided, single submitter clinical testing The c.1271T>C (p.I424T) alteration is located in exon 6 (coding exon 6) of the PEX1 gene. This alteration results from a T to C substitution at nucleotide position 1271, causing the isoleucine (I) at amino acid position 424 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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