ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn)

gnomAD frequency: 0.00014  dbSNP: rs143273433
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595432 SCV000703405 uncertain significance not provided 2017-09-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764730 SCV000895865 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000797623 SCV000937191 uncertain significance Zellweger spectrum disorders 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 417 of the PEX1 protein (p.Asp417Asn). This variant is present in population databases (rs143273433, 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: 498412). 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 PEX1 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.
GeneDx RCV000595432 SCV001985972 uncertain significance not provided 2020-02-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002532417 SCV003677240 uncertain significance Inborn genetic diseases 2022-07-25 criteria provided, single submitter clinical testing The c.1249G>A (p.D417N) alteration is located in exon 6 (coding exon 6) of the PEX1 gene. This alteration results from a G to A substitution at nucleotide position 1249, causing the aspartic acid (D) at amino acid position 417 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000797623 SCV001464253 uncertain significance Zellweger spectrum disorders 2017-11-14 no assertion criteria provided clinical testing

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