Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413076 | SCV000491360 | likely pathogenic | not provided | 2015-12-17 | criteria provided, single submitter | clinical testing | The c.1651dupA 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.1651dupA variant causes a frameshift starting with codon Threonine 551, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Thr551AsnfsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |