ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2235G>A (p.Thr745=)

gnomAD frequency: 0.00011  dbSNP: rs202208941
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001279743 SCV002775766 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-10-06 criteria provided, single submitter clinical testing
Invitae RCV001279743 SCV002951208 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-04-06 criteria provided, single submitter clinical testing This sequence change affects codon 745 of the CPT1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CPT1A protein. This variant also falls at the last nucleotide of exon 18, which is part of the consensus splice site for this exon. This variant is present in population databases (rs202208941, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 991520). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001279743 SCV001466864 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-04-16 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356689 SCV001551928 uncertain significance not provided no assertion criteria provided clinical testing

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