ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)

gnomAD frequency: 0.00003  dbSNP: rs757852291
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597849 SCV000703010 uncertain significance not provided 2016-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765866 SCV000897262 uncertain significance Phytanic acid storage disease; Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001058802 SCV001223398 uncertain significance Peroxisome biogenesis disorder 9B 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 29 of the PEX7 protein (p.Pro29Leu). This variant is present in population databases (rs757852291, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PEX7-related conditions. ClinVar contains an entry for this variant (Variation ID: 498141). 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.
Ambry Genetics RCV002532401 SCV003695095 uncertain significance Inborn genetic diseases 2021-03-26 criteria provided, single submitter clinical testing The c.86C>T (p.P29L) alteration is located in exon 1 (coding exon 1) of the PEX7 gene. This alteration results from a C to T substitution at nucleotide position 86, causing the proline (P) at amino acid position 29 to be replaced by a leucine (L). The in silico prediction for the p.P29L alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000597849 SCV004223943 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275003 SCV001459664 uncertain significance Rhizomelic chondrodysplasia punctata 2020-09-16 no assertion criteria provided clinical testing

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