ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.652_657dup (p.Arg218_Leu219dup)

gnomAD frequency: 0.00003  dbSNP: rs1432526114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597536 SCV000706230 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001351588 SCV001546078 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-06-27 criteria provided, single submitter clinical testing This variant, c.712_717dup, results in the insertion of 2 amino acid(s) of the PEX10 protein (p.Arg238_Leu239dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 500334). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. RCV001834896 SCV002094119 uncertain significance Zellweger spectrum disorders 2020-02-26 no assertion criteria provided clinical testing

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