Submissions for variant NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)

dbSNP: rs141505320

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000557848	SCV000632611	likely benign	Carnitine palmitoyltransferase II deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000557848	SCV001254828	uncertain significance	Carnitine palmitoyltransferase II deficiency	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Baylor Genetics	RCV000415654	SCV001527014	uncertain significance	Carnitine palmitoyl transferase II deficiency, severe infantile form	2018-08-03	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity	RCV003144256	SCV003829978	uncertain significance	not provided	2023-03-08	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV003144256	SCV004227842	uncertain significance	not provided	2023-06-22	criteria provided, single submitter	clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000415654	SCV000493729	uncertain significance	Carnitine palmitoyl transferase II deficiency, severe infantile form	2015-12-04	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000557848	SCV001454118	uncertain significance	Carnitine palmitoyltransferase II deficiency	2020-01-24	no assertion criteria provided	clinical testing