ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.113C>A (p.Thr38Asn)

gnomAD frequency: 0.00009  dbSNP: rs763566050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001915460 SCV002167605 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 38 of the PEX13 protein (p.Thr38Asn). This variant is present in population databases (rs763566050, gnomAD 0.07%). 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: 1399247). 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 RCV002554312 SCV003529484 uncertain significance Inborn genetic diseases 2022-07-27 criteria provided, single submitter clinical testing The c.113C>A (p.T38N) alteration is located in exon 2 (coding exon 2) of the PEX13 gene. This alteration results from a C to A substitution at nucleotide position 113, causing the threonine (T) at amino acid position 38 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004741131 SCV005356498 uncertain significance PEX13-related disorder 2024-09-06 no assertion criteria provided clinical testing The PEX13 c.113C>A variant is predicted to result in the amino acid substitution p.Thr38Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.072% of alleles in individuals of South Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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