ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.758G>T (p.Arg253Leu)

dbSNP: rs750769868
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001934458 SCV002121690 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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"). ClinVar contains an entry for this variant (Variation ID: 1362524). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 273 of the PEX10 protein (p.Arg273Leu).

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