ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.535G>A (p.Val179Ile)

dbSNP: rs542856213
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246631 SCV001420003 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002564110 SCV003757778 uncertain significance Inborn genetic diseases 2021-03-22 criteria provided, single submitter clinical testing The c.535G>A (p.V179I) alteration is located in exon 5 (coding exon 4) of the CPT1A gene. This alteration results from a G to A substitution at nucleotide position 535, causing the valine (V) at amino acid position 179 to be replaced by an isoleucine (I). The p.V179I alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001246631 SCV004235493 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2023-05-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001246631 SCV002092970 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-06-25 no assertion criteria provided clinical testing

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