ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.785C>T (p.Ser262Leu)

gnomAD frequency: 0.00001  dbSNP: rs62653610
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666583 SCV000790894 uncertain significance Rhizomelic chondrodysplasia punctata type 1 2017-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530690 SCV003293520 uncertain significance Peroxisome biogenesis disorder 9B 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 262 of the PEX7 protein (p.Ser262Leu). This variant is present in population databases (rs62653610, gnomAD 0.006%). This missense change has been observed in individual(s) with rhizomelic chondrodysplasia punctata (PMID: 11781871). ClinVar contains an entry for this variant (Variation ID: 551503). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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