ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.698G>A (p.Ser233Asn)

gnomAD frequency: 0.00022  dbSNP: rs200868032
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731121 SCV000858898 uncertain significance not provided 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV001061646 SCV001226395 uncertain significance Peroxisome biogenesis disorder 5A (Zellweger) 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 233 of the PEX2 protein (p.Ser233Asn). This variant is present in population databases (rs200868032, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with PEX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 595546). 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 PEX2 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 RCV002535189 SCV003719048 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.698G>A (p.S233N) alteration is located in exon 4 (coding exon 1) of the PEX2 gene. This alteration results from a G to A substitution at nucleotide position 698, causing the serine (S) at amino acid position 233 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001825465 SCV002083362 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing

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