Total submissions: 4
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, |
RCV001246631 | SCV004235493 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001246631 | SCV002092970 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2020-06-25 | no assertion criteria provided | clinical testing |