Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000250959 | SCV000318613 | pathogenic | Cardiovascular phenotype | 2018-04-11 | criteria provided, single submitter | clinical testing | The p.C522* pathogenic mutation (also known as c.1566C>A), located in coding exon 9 of the LMNA gene, results from a C to A substitution at nucleotide position 1566. This changes the amino acid from a cysteine to a stop codon within coding exon 9. 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. |