Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000596944 | SCV001399293 | pathogenic | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCA4 protein function. ClinVar contains an entry for this variant (Variation ID: 498228). This missense change has been observed in individuals with Stargardt and other retinal diseases (PMID: 25312043, 29555955; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 2072 of the ABCA4 protein (p.Ser2072Asn). |
Institute of Medical Genetics and Applied Genomics, |
RCV000596944 | SCV001446895 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000596944 | SCV001782330 | pathogenic | not provided | 2020-08-10 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29555955, 25312043) |
Eurofins Ntd Llc |
RCV000596944 | SCV000703130 | uncertain significance | not provided | 2016-11-08 | flagged submission | clinical testing |