Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000803823 | SCV000943710 | pathogenic | Neuronal ceroid lipofuscinosis 7 | 2023-11-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val278Cysfs*10) in the MFSD8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MFSD8 are known to be pathogenic (PMID: 19177532, 25227500, 28586915). This variant is present in population databases (rs775699005, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. ClinVar contains an entry for this variant (Variation ID: 648978). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074092 | SCV001239661 | likely pathogenic | Retinal dystrophy | 2018-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003228993 | SCV003925936 | pathogenic | not provided | 2023-04-27 | 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); Has not been previously published as pathogenic or benign in association with neurodevelopmental disorders to our knowledge; This variant is associated with the following publications: (PMID: 31964843) |