ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.520C>T (p.His174Tyr)

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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 RCV003075968 SCV003474113 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-03-13 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 174 of the PEX13 protein (p.His174Tyr). This variant is present in population databases (rs748313567, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV003086215 SCV003572434 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.520C>T (p.H174Y) alteration is located in exon 2 (coding exon 2) of the PEX13 gene. This alteration results from a C to T substitution at nucleotide position 520, causing the histidine (H) at amino acid position 174 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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