Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180146 | SCV000232534 | pathogenic | not provided | 2014-10-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000180146 | SCV004540148 | pathogenic | not provided | 2023-09-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln294*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 29975949). ClinVar contains an entry for this variant (Variation ID: 198720). For these reasons, this variant has been classified as Pathogenic. |