ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) (rs121918528)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409888 SCV000487481 likely pathogenic Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 2016-01-07 criteria provided, single submitter clinical testing
Counsyl RCV000009530 SCV000487482 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2016-01-07 criteria provided, single submitter clinical testing
Counsyl RCV000408956 SCV000487483 likely pathogenic Carnitine palmitoyltransferase II deficiency, lethal neonatal 2016-01-07 criteria provided, single submitter clinical testing
Invitae RCV000202546 SCV000632607 pathogenic Carnitine palmitoyltransferase II deficiency 2020-08-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 120 of the CPT2 protein (p.Tyr120Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs121918528, ExAC 0.05%). This variant has been observed in individual(s) with clinical features of carnitine palmitoyltransferase II deficiency (PMID: 10862092, 16996287, 18550408, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 8968). This variant has been reported to affect CPT2 protein function (PMID: 16615913). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000762942 SCV000893365 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced; Carnitine palmitoyltransferase II deficiency, lethal neonatal; Encephalopathy, acute, infection-induced, 4, susceptibility to 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000009530 SCV000029748 pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2008-08-01 no assertion criteria provided literature only
GeneReviews RCV000202546 SCV000153657 pathogenic Carnitine palmitoyltransferase II deficiency 2017-03-16 no assertion criteria provided literature only
Natera, Inc. RCV000202546 SCV001461215 likely pathogenic Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

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