ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.122C>A (p.Pro41His)

dbSNP: rs760976212
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807409 SCV000947458 uncertain significance Carnitine palmitoyltransferase II deficiency 2018-08-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CPT2-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces proline with histidine at codon 41 of the CPT2 protein (p.Pro41His). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and histidine.

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