ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys)

gnomAD frequency: 0.00353  dbSNP: rs1871748
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538455 SCV000632595 benign Carnitine palmitoyltransferase II deficiency 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000594905 SCV000707881 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516965 SCV003718553 likely benign Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV003456007 SCV004178288 likely benign Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454486 SCV004178289 likely benign Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454488 SCV004178290 likely benign Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454487 SCV004178291 likely benign Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736627 SCV004562053 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927722 SCV004739738 likely benign CPT2-related disorder 2019-06-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000538455 SCV001456153 likely benign Carnitine palmitoyltransferase II deficiency 2020-01-11 no assertion criteria provided clinical testing

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