Submissions for variant NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter)

dbSNP: rs767241290

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001248371	SCV001421852	pathogenic	Carnitine palmitoyl transferase 1A deficiency	2023-11-24	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg245*) in the CPT1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). This variant is present in population databases (rs767241290, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (PMID: 28468868). ClinVar contains an entry for this variant (Variation ID: 972353). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc.	RCV001248371	SCV002060028	pathogenic	Carnitine palmitoyl transferase 1A deficiency	2021-11-11	criteria provided, single submitter	clinical testing	NM_001876.3(CPT1A):c.733C>T(R245*) is a nonsense variant classified as pathogenic in the context of carnitine palmitoyltransferase IA deficiency. R245* has been observed in cases with relevant disease (PMID: 28468868). Functional assessments of this variant are not available in the literature. R245* has been observed in population frequency databases (gnomAD: SAS 0.02%). NM_001876.3(CPT1A):c.733C>T(R245*) is a nonsense variant in a gene where loss of function is a known mechanism of disease, is predicted to disrupt protein function, and has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Natera, Inc.	RCV001248371	SCV002092964	pathogenic	Carnitine palmitoyl transferase 1A deficiency	2021-02-16	no assertion criteria provided	clinical testing