ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2061C>G (p.Ser687Arg)

dbSNP: rs1269472669
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550330 SCV000638097 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2022-07-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 463966). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 missense change has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 687 of the CPT1A protein (p.Ser687Arg).

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