ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1519G>A (p.Val507Ile)

gnomAD frequency: 0.00024  dbSNP: rs142600166
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493417 SCV000582237 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing The V507I variant has not been published as a pathogenicvariant, nor has it been reported as a benign variant to our knowledge. The V507I variant is observedin 12/8012 alleles (0.15%) alleles from individuals of East Asian background in large populationcohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V507Ivariant is a conservative amino acid substitution, which is not likely to impact secondary proteinstructure as these residues share similar properties. This substitution occurs at a position that is notconserved. In silico analysis predicts this variant likely does not alter the protein structure/function. Insummary, based on the currently available information, it is unclear whether this variant is apathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000697208 SCV000825805 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527080 SCV003715105 likely benign Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000493417 SCV003829975 uncertain significance not provided 2019-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000697208 SCV001456149 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-01-17 no assertion criteria provided clinical testing

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