ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1867_1890del (p.Cys623_Gly630del) (rs1553170006)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668647 SCV000793281 uncertain significance Carnitine palmitoyltransferase II deficiency, infantile 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV001229112 SCV001401548 uncertain significance Carnitine palmitoyltransferase II deficiency 2019-11-14 criteria provided, single submitter clinical testing This variant, c.1867_1890del, results in the deletion of 8 amino acid(s) of the CPT2 protein (p.Cys623_Gly630del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CPT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 553242). This variant disrupts the p.Tyr628 amino acid residue in CPT2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8651281, 10734268). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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