ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1271AAG[1] (p.Glu425del)

dbSNP: rs747376723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664961 SCV000789007 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2016-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000664961 SCV003023352 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-04-11 criteria provided, single submitter clinical testing This variant, c.1274_1276del, results in the deletion of 1 amino acid(s) of the CPT1A protein (p.Glu425del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs747376723, gnomAD 0.007%). 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: 550261). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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