ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) (rs61753236)

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Total submissions: 2
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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
Invitae RCV000654914 SCV000776818 uncertain significance Peroxisome biogenesis disorder 9B 2018-01-03 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 25 of the PEX7 protein (p.Ser25Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in combination with another PEX7 variant in an individual affected with rhizomelic chondrodysplasia punctata (PMID: 12325024). ClinVar contains an entry for this variant (Variation ID: 188918). Experimental studies have shown that this missense change results in a partial impairment of peroxisomal import of PTS2 (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.

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