ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1876G>C (p.Val626Leu)

gnomAD frequency: 0.00029  dbSNP: rs41302429
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001583352 SCV001811067 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001866114 SCV002268739 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 626 of the CPT1A protein (p.Val626Leu). This variant is present in population databases (rs41302429, gnomAD 0.05%). 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: 1211543). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002570829 SCV003676398 uncertain significance Inborn genetic diseases 2021-02-09 criteria provided, single submitter clinical testing The c.1876G>C (p.V626L) alteration is located in exon 16 (coding exon 15) of the CPT1A gene. This alteration results from a G to C substitution at nucleotide position 1876, causing the valine (V) at amino acid position 626 to be replaced by a leucine (L). The p.V626L alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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