ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter)

gnomAD frequency: 0.00001  dbSNP: rs773153659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814512 SCV000954925 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-03-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 657820). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. This variant is present in population databases (rs773153659, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg598*) 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).
Ambry Genetics RCV002534842 SCV003602016 pathogenic Inborn genetic diseases 2022-02-09 criteria provided, single submitter clinical testing The c.1792C>T (p.R598*) alteration, located in exon 15 (coding exon 14) of the CPT1A gene, consists of a C to T substitution at nucleotide position 1792. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 598. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of 0.001% (3/282690) total alleles studied. The highest observed frequency was 0.002% (3/129122) of European (non-Finnish) alleles. Based on the available evidence, this alteration is classified as pathogenic.
Baylor Genetics RCV000814512 SCV004216815 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-10-07 criteria provided, single submitter clinical testing

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