ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1A>G (p.Met1Val)

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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 RCV003070892 SCV003445712 pathogenic Peroxisome biogenesis disorder 2023-11-20 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PEX6 mRNA. The next in-frame methionine is located at codon 288. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 2139685). 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. For these reasons, this variant has been classified as Pathogenic.

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