ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.281+1G>A

gnomAD frequency: 0.00001  dbSNP: rs191107774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177139 SCV000228970 pathogenic not provided 2012-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854409 SCV002313298 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-03-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 93973). Disruption of this splice site has been observed in individuals with carnitine palmitoyltransferase 1A deficiency (PMID: 33845545, 34869124). This variant is present in population databases (rs191107774, gnomAD 0.007%). This sequence change affects a donor splice site in intron 3 of the CPT1A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268).
Baylor Genetics RCV001854409 SCV004216824 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-07-21 criteria provided, single submitter clinical testing

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