Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497628 | SCV000589483 | uncertain significance | not provided | 2017-05-31 | criteria provided, single submitter | clinical testing | The N426S variant in the variant in the PNPLA2 gene has been reported previously in the heterozygous state in a healthy individual at high risk for atherosclerosis; although functional studies noted that this variant results in a protein with reduced catalytic activity, the protein localizes correctly to lipid droplets (Coassin et al., 2010). The N426S variant is observed in 98/30436 (0.32%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The N426S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position where amino acids with similar properties to Asparagine are tolerated across species and where Serine is observed in several species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret N426S as a variant of uncertain significance. |
Invitae | RCV001079255 | SCV000641119 | likely benign | Neutral lipid storage myopathy | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001079255 | SCV001270829 | uncertain significance | Neutral lipid storage myopathy | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |