ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.160G>T (p.Val54Leu)

dbSNP: rs147389938
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244558 SCV001417787 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001550146 SCV001770433 uncertain significance not provided 2019-04-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29429925)
Ambry Genetics RCV002568593 SCV003690789 likely benign Inborn genetic diseases 2022-01-14 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.
Natera, Inc. RCV001244558 SCV002092978 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-01-17 no assertion criteria provided clinical testing

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