Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038040 | SCV000061706 | likely benign | not specified | 2018-08-16 | criteria provided, single submitter | clinical testing | The p.Arg1485Ser (c.4455G>C) variant in DSP is classified as likely benign becau se another variant (c.4455G>T) resulting in the same amino acid change has been identified in 1.8% (445/23888) of African chromosomes by gnomAD (http://gnomad.b roadinstitute.org). In addition, computational tools suggest that this variant m ay not impact the protein. ACMG/AMP Criteria applied: BP4. |