ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.733A>T (p.Ile245Phe)

dbSNP: rs750815894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667050 SCV000791441 uncertain significance Rhizomelic chondrodysplasia punctata type 1 2017-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855474 SCV002261228 uncertain significance Peroxisome biogenesis disorder 9B 2022-03-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 245 of the PEX7 protein (p.Ile245Phe). This variant is present in population databases (rs750815894, gnomAD 0.0009%). This missense change has been observed in individuals with rhizomelic chondrodysplasia punctata (PMID: 26408048; Invitae). ClinVar contains an entry for this variant (Variation ID: 551886). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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