ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2235+4T>C

gnomAD frequency: 0.00003  dbSNP: rs755308448
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609082 SCV000727989 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000687180 SCV000814733 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-08-20 criteria provided, single submitter clinical testing This sequence change falls in intron 18 of the CPT1A gene. It does not directly change the encoded amino acid sequence of the CPT1A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs755308448, 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: 515758). 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. RCV000687180 SCV001452923 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-01-24 no assertion criteria provided clinical testing

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