Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487055 | SCV000572276 | pathogenic | not provided | 2016-12-23 | criteria provided, single submitter | clinical testing | The de novo c.1776_1777delTT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1776_1777delTT variant causes a frameshift starting with codon Serine 593, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Ser593LeufsX17. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant has been previously reported as a likely pathogenic variant, but has been reclassified as a pathogenic variant based on maternal and paternal testing. |