Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002453245 | SCV002739826 | pathogenic | Cardiovascular phenotype | 2022-03-25 | criteria provided, single submitter | clinical testing | The p.Y88* pathogenic mutation (also known as c.264T>A), located in coding exon 3 of the LPL gene, results from a T to A substitution at nucleotide position 264. This changes the amino acid from a tyrosine to a stop codon within coding exon 3. This variant (also reported with legacy nomenclature p.Y61*) has been detected in the homozygous state or in trans with another pathogenic LPL variant in multiple individuals with LPL-related chylomicronemia syndrome (Gotoda T et al. J Clin Invest, 1991 12;88:1856-64; Gotoda T et al. Biochim Biophys Acta, 1992 Apr;1138:353-6; Ebara T et al. Atherosclerosis, 2001 Dec;159:375-9; Rabacchi C et al. Atherosclerosis, 2015 Jul;241:79-86; Tanaka S et al. Intern Med, 2019 Jan;58:251-257). In addition to the clinical data in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| OMIM | RCV000001600 | SCV000021756 | pathogenic | Hyperlipoproteinemia, type I | 1992-04-14 | no assertion criteria provided | literature only |