ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg)

gnomAD frequency: 0.00008  dbSNP: rs371136331
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729646 SCV000857322 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001057260 SCV001221743 uncertain significance Zellweger spectrum disorders 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1044 of the PEX1 protein (p.Gly1044Arg). This variant is present in population databases (rs371136331, gnomAD 0.03%). 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: 594375). 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 expected to disrupt PEX1 protein function with a positive 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282348 SCV002570619 uncertain significance not specified 2022-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536433 SCV003723774 uncertain significance Inborn genetic diseases 2021-06-09 criteria provided, single submitter clinical testing The c.3130G>A (p.G1044R) alteration is located in exon 20 (coding exon 20) of the PEX1 gene. This alteration results from a G to A substitution at nucleotide position 3130, causing the glycine (G) at amino acid position 1044 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001057260 SCV002076824 uncertain significance Zellweger spectrum disorders 2018-08-07 no assertion criteria provided clinical testing

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