ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.353A>G (p.Asp118Gly)

gnomAD frequency: 0.00085  dbSNP: rs148035648
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440638 SCV000238787 benign not provided 2018-04-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000440638 SCV000510789 uncertain significance not provided 2016-10-25 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085585 SCV000632606 benign Carnitine palmitoyltransferase II deficiency 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000440638 SCV000885261 uncertain significance not provided 2023-11-22 criteria provided, single submitter clinical testing The CPT2 c.353A>G; p.Asp118Gly variant (rs148035648), to our knowledge, is not reported in the medical literature but is reported as uncertain significance/benign in ClinVar (Variation ID: 203666). This variant is found in the Latino population with an overall allele frequency of 1.5% (505/34418 alleles, including 5 homozygotes) in the Genome Aggregation Database. The aspartic acid at codon 118 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Splicing analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site. However, given the lack of clinical and functional data, the significance of the p.Asp118Gly variant is uncertain at this time.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001804920 SCV002050851 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947559 SCV004769571 benign CPT2-related disorder 2019-07-24 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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