Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623440 | SCV000741923 | uncertain significance | Inborn genetic diseases | 2017-10-06 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268332 | SCV001447173 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001268332 | SCV001875136 | pathogenic | not provided | 2022-04-21 | criteria provided, single submitter | clinical testing | Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 157 amino acids are lost and replaced with 83 incorrect amino acids; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24680889) |
DASA | RCV000114964 | SCV002097274 | likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 2022-02-14 | criteria provided, single submitter | clinical testing | The c.3562del;p.(Ser1188Leufs*84) is a null frameshift variant in the SETD5 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript -PVS1_strong. This variant is not present in population databases (rs587777329, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic. |
Invitae | RCV001268332 | SCV004292200 | pathogenic | not provided | 2023-04-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SETD5 protein in which other variant(s) (p.Ser1286Leufs*37) have been determined to be pathogenic (PMID: 28549204; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 127106). This premature translational stop signal has been observed in individual(s) with severe intellectual disability (PMID: 24680889). In at least one individual the variant was observed to be de novo. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1286Leufs*84) in the SETD5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 157 amino acid(s) of the SETD5 protein. |
OMIM | RCV000114964 | SCV000148874 | pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 2014-04-03 | no assertion criteria provided | literature only |