Description
A variant of uncertain significance has been identified in the PLN gene. The c.143_158del16insGC variant has notbeen published as pathogenic or reported as benign to our knowledge and it was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is nota common benign variant in these populations. This variant causes a shift in reading frame starting at codonIsoleucine 48, changing it to a Serine, and creates a premature stop codon at position 8 of the new reading frame,thereby replacing the last 5 amino acids of PLN with 7 incorrect amino acids, denoted p.Ile48SerfsX8 (I48SfsX8).The amino acids affected by this variant are well conserved across species and in silico analysis predicts this variant isprobably damaging to the protein structure/function. Nevertheless, no frameshift variants in nearby residues have beenreported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014),suggesting that this region is not a known mutational hot-spot" or well-established domain in the PLN gene.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign."
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
