ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)

dbSNP: rs28936673
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Total submissions: 7
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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-Nilou Lab 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
GeneReviews 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

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