ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2T>C (p.Met1Thr)

dbSNP: rs1554128597
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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 RCV001886330 SCV002150433 pathogenic Peroxisome biogenesis disorder 2023-06-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PEX6 protein in which other variant(s) (p.Pro274Leu) have been determined to be pathogenic (PMID: 15542397, 19877282, 24016303, 26387595). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1380352). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the PEX6 mRNA. The next in-frame methionine is located at codon 288.

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