ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly)

gnomAD frequency: 0.00003  dbSNP: rs80356796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000298507 SCV000332900 uncertain significance not provided 2015-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000055872 SCV001517225 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 316 of the CPT1A protein (p.Arg316Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (PMID: 15110323). ClinVar contains an entry for this variant (Variation ID: 65659). 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"). 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.
GeneReviews RCV000055872 SCV000086875 not provided Carnitine palmitoyl transferase 1A deficiency no assertion provided literature only
Natera, Inc. RCV000055872 SCV002092962 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-02-27 no assertion criteria provided clinical testing

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