Submissions for variant NM_001876.4(CPT1A):c.1741-1G>A

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003226726	SCV003922854	likely pathogenic	Carnitine palmitoyl transferase 1A deficiency	2023-03-15	criteria provided, single submitter	clinical testing	Variant summary: CPT1A c.1741-1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 3' acceptor site. Four predict the variant creates a cryptic 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251208 control chromosomes. To our knowledge, no occurrence of c.1741-1G>A in individuals affected with Carnitine Palmitoyltransferase I Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.