ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.406A>G (p.Asn136Asp)

gnomAD frequency: 0.00002  dbSNP: rs766587819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001950580 SCV002219664 uncertain significance Peroxisome biogenesis disorder 2B 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 136 of the PEX5 protein (p.Asn136Asp). This variant is present in population databases (rs766587819, gnomAD 0.005%). 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: 1441202). 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 PEX5 protein function with a negative 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.
Ambry Genetics RCV004651861 SCV005153249 uncertain significance Inborn genetic diseases 2024-06-13 criteria provided, single submitter clinical testing The c.406A>G (p.N136D) alteration is located in exon 5 (coding exon 4) of the PEX5 gene. This alteration results from a A to G substitution at nucleotide position 406, causing the asparagine (N) at amino acid position 136 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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