Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000480295 | SCV000572609 | likely pathogenic | not provided | 2017-01-18 | criteria provided, single submitter | clinical testing | The c.838delA variant in the CAMTA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.838delA variant causes a frameshift starting with codon Serine 280, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 110 of the new reading frame, denoted p.Ser280AlafsX110. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.838delA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.838delA as a likely pathogenic variant. |
| Labcorp Genetics |
RCV000480295 | SCV001581798 | pathogenic | not provided | 2018-02-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser280Alafs*110) in the CAMTA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CAMTA1-related disease. ClinVar contains an entry for this variant (Variation ID: 422992). Loss-of-function variants in CAMTA1 are known to be pathogenic (PMID: 22693284). For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV001839006 | SCV002098948 | pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 2022-02-24 | no assertion criteria provided | literature only |