Submissions for variant NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser)

gnomAD frequency: 0.00004  dbSNP: rs552007692

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000415847	SCV000493573	uncertain significance	not provided	2016-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001278073	SCV001786801	uncertain significance	Carnitine palmitoyl transferase 1A deficiency	2021-07-14	criteria provided, single submitter	clinical testing
Invitae	RCV001278073	SCV003296008	likely benign	Carnitine palmitoyl transferase 1A deficiency	2024-01-25	criteria provided, single submitter	clinical testing
Neuberg Centre For Genomic Medicine, NCGM	RCV001278073	SCV004046927	uncertain significance	Carnitine palmitoyl transferase 1A deficiency		criteria provided, single submitter	clinical testing	The missense variant c.145G>A (p.Gly49Ser) in CPT1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has been reported to the ClinVar database as Uncertain Significance. The p.Gly49Ser variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.01600% is reported in gnomAD. The amino acid Gly at position 49 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Gly49Ser in CPT1A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. In the absence of another reportable variant the molecular diagnosis is not confirmed.
Natera, Inc.	RCV001278073	SCV001465066	uncertain significance	Carnitine palmitoyl transferase 1A deficiency	2020-05-20	no assertion criteria provided	clinical testing