ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1A>G (p.Met1Val)

dbSNP: rs2135875571
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001892659 SCV002149878 uncertain significance Peroxisome biogenesis disorder 2B 2021-09-26 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PEX5 mRNA. The next in-frame methionine is located at codon 3. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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