Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996641 | SCV001151460 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000996641 | SCV001447671 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV002222193 | SCV002499657 | likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 2022-03-14 | criteria provided, single submitter | clinical testing | ACMG categories: PVS1,PM2 |
Invitae | RCV000996641 | SCV003442574 | pathogenic | not provided | 2022-09-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg979Glyfs*45) in the LAMA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA1 are known to be pathogenic (PMID: 25105227, 26932191). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 808351). This premature translational stop signal has been observed in individuals with Poretti-Boltshauser syndrome (PMID: 26932191). This variant is present in population databases (rs758601967, gnomAD 0.003%). |