ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1690A>G (p.Ile564Val)

dbSNP: rs778897851
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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 RCV001301045 SCV001490202 uncertain significance Peroxisome biogenesis disorder 2B 2022-05-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 564 of the PEX5 protein (p.Ile564Val). This variant is present in population databases (rs778897851, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1004355). 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 RCV004651550 SCV005153251 uncertain significance Inborn genetic diseases 2024-04-01 criteria provided, single submitter clinical testing The c.1690A>G (p.I564V) 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 1690, causing the isoleucine (I) at amino acid position 564 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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