ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) (rs757852291)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC 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
Invitae RCV001058802 SCV001223398 uncertain significance Peroxisome biogenesis disorder 9B 2020-10-08 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 29 of the PEX7 protein (p.Pro29Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. While this variant is present in population databases (rs757852291), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals 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: Tolerated; 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.
Natera, Inc. RCV001275003 SCV001459664 uncertain significance Rhizomelic chondrodysplasia punctata 2020-09-16 no assertion criteria provided clinical testing

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