ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln)

gnomAD frequency: 0.00010  dbSNP: rs757593086
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001278058 SCV002780225 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-07-26 criteria provided, single submitter clinical testing
Invitae RCV001278058 SCV003244772 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002541673 SCV003573715 likely benign Inborn genetic diseases 2021-07-27 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. RCV001278058 SCV001465051 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-04-16 no assertion criteria provided clinical testing

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