ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)

dbSNP: rs1554127531
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672797 SCV000797940 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2018-02-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586868 SCV005076508 likely pathogenic Peroxisome biogenesis disorder 2024-04-25 criteria provided, single submitter clinical testing Variant summary: PEX6 c.1238G>T (p.Gly413Val) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.8e-07 in 1461712 control chromosomes (gnomAD v4.0.0). c.1238G>T has been reported in the literature in individuals affected with Peroxisome Biogenesis Disorder (Zaki_2016). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 26593283). ClinVar contains an entry for this variant (Variation ID: 556748). Based on the evidence outlined above, the variant was classified as likely pathogenic.
OMIM RCV001268931 SCV001448181 pathogenic Heimler syndrome 2 2020-11-25 no assertion criteria provided literature only

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