Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732552 | SCV000860520 | uncertain significance | not provided | 2018-04-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360857 | SCV002663656 | uncertain significance | Cardiovascular phenotype | 2021-09-16 | criteria provided, single submitter | clinical testing | The p.P232S variant (also known as c.694C>T), located in coding exon 5 of the FKTN gene, results from a C to T substitution at nucleotide position 694. The proline at codon 232 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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. |