Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598758 | SCV000710219 | likely pathogenic | not provided | 2022-06-09 | criteria provided, single submitter | clinical testing | Frameshift 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 significant frequency in large population cohorts (gnomAD); Observed in a patient with primary microcephaly with a second CEP152 variant but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Duerinckx et al., 2021); This variant is associated with the following publications: (PMID: 31589614, 34402213) |
Invitae | RCV000598758 | SCV002234680 | pathogenic | not provided | 2023-12-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val1084Cysfs*7) in the CEP152 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP152 are known to be pathogenic (PMID: 21131973). This variant is present in population databases (rs754267846, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with CEP152-related conditions (PMID: 34402213). ClinVar contains an entry for this variant (Variation ID: 503918). For these reasons, this variant has been classified as Pathogenic. |
Prevention |
RCV003420052 | SCV004109512 | pathogenic | CEP152-related condition | 2023-02-24 | criteria provided, single submitter | clinical testing | The CEP152 c.3249delT variant is predicted to result in a frameshift and premature protein termination (p.Val1084Cysfs*7). This variant was reported in a patient with primary microcephaly (Duerinckx et al. 2021. PubMed ID: 34402213). This variant is reported in 0.012% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-49048195-CA-C). Frameshift variants in CEP152 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, |
RCV001507255 | SCV001481947 | likely pathogenic | Microcephaly 9, primary, autosomal recessive | 2020-01-01 | no assertion criteria provided | clinical testing |