ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs552007692
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Total submissions: 6
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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
Labcorp Genetics (formerly Invitae), Labcorp 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.
Breakthrough Genomics, Breakthrough Genomics RCV000415847 SCV005190416 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001278073 SCV001465066 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-05-20 no assertion criteria provided clinical testing

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