ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.877A>G (p.Ser293Gly)

gnomAD frequency: 0.00006  dbSNP: rs145237292
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635371 SCV000756780 likely benign Carnitine palmitoyltransferase II deficiency 2024-12-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563780 SCV001786807 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563781 SCV001786808 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563782 SCV001786809 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001584466 SCV001812879 likely benign not provided 2025-04-16 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002533202 SCV003531731 uncertain significance Inborn genetic diseases 2022-01-28 criteria provided, single submitter clinical testing The c.877A>G (p.S293G) alteration is located in exon 4 (coding exon 4) of the CPT2 gene. This alteration results from a A to G substitution at nucleotide position 877, causing the serine (S) at amino acid position 293 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005019055 SCV005653776 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 2024-06-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056360 SCV005727238 uncertain significance not specified 2024-11-04 criteria provided, single submitter clinical testing Variant summary: CPT2 c.877A>G (p.Ser293Gly) results in a non-conservative amino acid change located in the Choline/carnitine acyltransferase domain (IPR039551) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 251326 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in CPT2 causing Carnitine Palmitoyltransferase II Deficiency (0.00011 vs 0.0016), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.877A>G in individuals affected with Carnitine Palmitoyltransferase II Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 529867). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV000635371 SCV001454122 uncertain significance Carnitine palmitoyltransferase II deficiency 2019-10-28 no assertion criteria provided clinical testing

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