ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.47C>T (p.Pro16Leu)

dbSNP: rs747575697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001884011 SCV002148272 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 16 of the CPT1A protein (p.Pro16Leu). This variant is present in population databases (rs747575697, gnomAD 0.003%). 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: 1387361). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004041420 SCV004850243 uncertain significance Inborn genetic diseases 2023-11-17 criteria provided, single submitter clinical testing The c.47C>T (p.P16L) alteration is located in exon 2 (coding exon 1) of the CPT1A gene. This alteration results from a C to T substitution at nucleotide position 47, causing the proline (P) at amino acid position 16 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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