Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002362839 | SCV002662646 | uncertain significance | Cardiovascular phenotype | 2021-02-24 | criteria provided, single submitter | clinical testing | The p.F237S variant (also known as c.710T>C), located in coding exon 4 of the LMNA gene, results from a T to C substitution at nucleotide position 710. The phenylalanine at codon 237 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
Blueprint Genetics | RCV000157292 | SCV000207024 | pathogenic | Primary dilated cardiomyopathy | 2014-02-20 | no assertion criteria provided | clinical testing |