Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001569496 | SCV001793587 | pathogenic | not provided | 2022-02-10 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32643282) |
Revvity Omics, |
RCV001255738 | SCV003823159 | likely pathogenic | Microcephaly 8, primary, autosomal recessive | 2021-11-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001569496 | SCV004523571 | pathogenic | not provided | 2023-04-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 977828). This premature translational stop signal has been observed in individual(s) with primary microcephaly (PMID: 32643282). This variant is present in population databases (rs200676378, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Lys1071*) in the CEP135 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP135 are known to be pathogenic (PMID: 22521416, 26657937). |
Service de Génétique Moléculaire, |
RCV001255738 | SCV001432312 | likely pathogenic | Microcephaly 8, primary, autosomal recessive | no assertion criteria provided | clinical testing |