ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.247A>G (p.Ile83Val)

gnomAD frequency: 0.00001  dbSNP: rs748174436
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001278071 SCV003250394 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-07-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 83 of the CPT1A protein (p.Ile83Val). This variant is present in population databases (rs748174436, gnomAD 0.02%). 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: 990123). 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 create or strengthen a 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692391 SCV005190415 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001278071 SCV001465064 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-04-16 no assertion criteria provided clinical testing

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