Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003122292 | SCV003795565 | pathogenic | Kleefstra syndrome 1 | 2022-06-28 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 7-27 of the EHMT1 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. This variant disrupts a region of the EHMT1 protein in which other variant(s) (p.Asn1194Thrfs*38) have been determined to be pathogenic (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. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV003105291 | SCV003794313 | pathogenic | not provided | 2022-06-28 | flagged submission | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 1-15 of the CACNA1B gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CACNA1B are known to be pathogenic (PMID: 30982612). This variant has not been reported in the literature in individuals affected with CACNA1B-related conditions. For these reasons, this variant has been classified as Pathogenic. |