Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002355586 | SCV002620023 | uncertain significance | Cardiovascular phenotype | 2021-06-12 | criteria provided, single submitter | clinical testing | The p.K129T variant (also known as c.386A>C), located in coding exon 3 of the LPL gene, results from an A to C substitution at nucleotide position 386. The lysine at codon 129 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| New York Genome Center | RCV003228070 | SCV003925073 | uncertain significance | Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinemia, type I | 2022-03-14 | criteria provided, single submitter | clinical testing | The c.386A>C (p. Lys129Thr) missense variant in the LPL gene identified in exon 3 (of 10) has not been reported in affected individuals in the literature. The variant has 0.00003286 allele frequency in the gnomAD (v3.1.2) databases (5 out of 152146 heterozygous alleles, no homozygotes), suggesting it is not a common benign variant in the populations represented in this database. This variant affects a conserved residue (Lys129) located in the N-terminal hydrolase domain (PMID: 33277156) of LPL protein. This variant is predicted deleterious by multiple in silico prediction tools (CADD score=23.5 and REVEL score=0.661). Based on the available evidence, the heterozygous c.386A>C (p.Lys129Thr) missense variant identified in the LPL gene is reported as a Variant of Uncertain Significance. |