ClinVar Miner

Submissions for variant NM_000098.2(CPT2):c.359A>G (p.Tyr120Cys) (rs121918528)

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Total submissions: 7
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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
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
GeneReviews RCV000202546 SCV000153657 pathogenic Carnitine palmitoyltransferase II deficiency 2014-05-15 no assertion criteria provided literature only
Invitae RCV000202546 SCV000632607 likely pathogenic Carnitine palmitoyltransferase II deficiency 2017-08-28 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 reported in individuals affected with the infantile and adult forms of carnitine palmitoyltransferase II deficiency (PMID: 10862092, 16996287, 18550408). ClinVar contains an entry for this variant (Variation ID: 8968). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. Crys­tal­lo­graphic stud­ies predict the involvement of this residue in the formation of a hydrogen bond network in the carnitine binding pocket of CPT2, necessary for protein activity (PMID: 16615913, 16781677). For these reasons, this variant has been classified as Likely Pathogenic.
OMIM RCV000009530 SCV000029748 pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2008-08-01 no assertion criteria provided literature only

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