ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.116A>C (p.His39Pro)

gnomAD frequency: 0.00003  dbSNP: rs61753237
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004174 SCV001162991 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473544 SCV004203896 likely pathogenic Peroxisome biogenesis disorder 9B 2024-03-22 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003473544 SCV004805376 likely pathogenic Peroxisome biogenesis disorder 9B 2024-03-25 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702573 SCV005204057 uncertain significance not specified 2024-06-21 criteria provided, single submitter clinical testing Variant summary: PEX7 c.116A>C (p.His39Pro) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.4e-05 in 29772 control chromosomes (gnomAD). c.116A>C has been reported in the literature in an individual affected with Rhizomelic Chondrodysplasia Punctata Type 1 (Braverman_2002). This report does not provide unequivocal conclusions about association of the variant with Rhizomelic Chondrodysplasia Punctata Type 1. At least one publication reports experimental evidence evaluating an impact on protein function, finding that the variant results in impaired import of PTS2 (Braverman_2002). The following publication has been ascertained in the context of this evaluation (PMID: 12325024). ClinVar contains an entry for this variant (Variation ID: 813362). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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