Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004035459 | SCV003882033 | uncertain significance | Cardiovascular phenotype | 2023-06-29 | criteria provided, single submitter | clinical testing | The p.I391V variant (also known as c.1171A>G), located in coding exon 9 of the LIPA gene, results from an A to G substitution at nucleotide position 1171. The isoleucine at codon 391 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001277798 | SCV001464767 | uncertain significance | Lysosomal acid lipase deficiency | 2020-11-17 | no assertion criteria provided | clinical testing |