ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.620A>C (p.Asn207Thr)

gnomAD frequency: 0.00001  dbSNP: rs1316575619
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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 RCV001322207 SCV001513068 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 207 of the PEX13 protein (p.Asn207Thr). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. ClinVar contains an entry for this variant (Variation ID: 1022319). 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 PEX13 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 RCV002546090 SCV003568257 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.620A>C (p.N207T) alteration is located in exon 2 (coding exon 2) of the PEX13 gene. This alteration results from a A to C substitution at nucleotide position 620, causing the asparagine (N) at amino acid position 207 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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