ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.1030G>A (p.Glu344Lys)

gnomAD frequency: 0.00003  dbSNP: rs550755703
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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 RCV001953182 SCV002217674 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2023-08-30 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1442815). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. This variant is present in population databases (rs550755703, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 344 of the PEX13 protein (p.Glu344Lys).
Ambry Genetics RCV002562841 SCV003618191 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.1030G>A (p.E344K) alteration is located in exon 4 (coding exon 4) of the PEX13 gene. This alteration results from a G to A substitution at nucleotide position 1030, causing the glutamic acid (E) at amino acid position 344 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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