Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000009514 | SCV000791042 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2017-04-25 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000009514 | SCV001135292 | pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2019-05-28 | criteria provided, single submitter | clinical testing | |
3billion | RCV000009514 | SCV004013804 | pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Protein truncation variants are a common disease-causing mechanism. Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 8651281). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.93). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000008956 / PMID: 8651281). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 20661589, 8651281). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. | |
Genome- |
RCV000009514 | SCV004178339 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000009514 | SCV000029732 | pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 1999-07-01 | no assertion criteria provided | literature only | |
Gene |
RCV000202449 | SCV000153672 | not provided | Carnitine palmitoyltransferase II deficiency | no assertion provided | literature only | ||
OMIM | RCV000415611 | SCV000493925 | pathogenic | Carnitine palmitoyl transferase II deficiency, myopathic form | 1999-07-01 | no assertion criteria provided | literature only |