ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) (rs28936674)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000009516 SCV000790198 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2017-03-15 criteria provided, single submitter clinical testing
Invitae RCV000202437 SCV001404397 pathogenic Carnitine palmitoyltransferase II deficiency 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 174 of the CPT2 protein (p.Glu174Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs28936674, ExAC 0.01%). This variant has been observed to be in combination with another CPT2 variant in individual(s) with carnitine palmitoyltransferase II deficiency (PMID: 9600456, 18577113, 8682496). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 8957). This variant has been reported to affect CPT2 protein function (PMID: 9600456). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009516 SCV000029734 pathogenic Carnitine palmitoyltransferase II deficiency, infantile 1996-07-01 no assertion criteria provided literature only
GeneReviews RCV000202437 SCV000153658 pathogenic Carnitine palmitoyltransferase II deficiency 2017-03-16 no assertion criteria provided literature only

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