ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)

dbSNP: rs61753236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169280 SCV000220587 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2014-08-12 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV000654914 SCV000776818 uncertain significance Peroxisome biogenesis disorder 9B 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 25 of the PEX7 protein (p.Ser25Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of PEX7-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 188918). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects PEX7 function (PMID: 12325024). 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.
Baylor Genetics RCV000654914 SCV004203914 likely pathogenic Peroxisome biogenesis disorder 9B 2023-03-01 criteria provided, single submitter clinical testing

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