Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227955 | SCV001400335 | benign | Luscan-Lumish syndrome | 2020-03-07 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001227955 | SCV002025741 | uncertain significance | Luscan-Lumish syndrome | 2020-05-01 | criteria provided, single submitter | clinical testing | The inherited c.6029C>T (p.Thr2010Ile) missense variant in exon 12 of 21 of SETD2 has not been reported in affected individuals in the available literature. This variant is not present in gnomAD indicating it is not a common benign variant in the populations represented in this database. In silico predictors suggest this variant is Damaging (Provean; score: -2.57) and Tolerated (SIFT; score: 0.085). Given the conflicting evidence regarding its pathogenicity, the inherited c.6029C>T (p.Thr2010Ile) variant identified in the SETD2 gene is reported as a Variant of Uncertain Significance. |
Gene |
RCV003127704 | SCV003803191 | uncertain significance | not provided | 2023-02-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |