ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1565A>G (p.Tyr522Cys)

dbSNP: rs1205322300
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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 RCV001902897 SCV002159118 uncertain significance Peroxisome biogenesis disorder 2B 2022-04-22 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. 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 C15"). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 522 of the PEX5 protein (p.Tyr522Cys). This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002555239 SCV003664794 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.1565A>G (p.Y522C) alteration is located in exon 15 (coding exon 14) of the PEX5 gene. This alteration results from a A to G substitution at nucleotide position 1565, causing the tyrosine (Y) at amino acid position 522 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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