Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000169682 | SCV000221220 | pathogenic | Usher syndrome type 2A | 2014-01-20 | criteria provided, single submitter | clinical testing | The Asn405fs variant in USH2A has been reported in at least 5 individuals with Usher syndrome type II, including one homozygote and 3 compound heterozygotes (Bernal 2005; Schwartz 2005; Sandberg 2008, Garcia-Garcia 2011). This frameshift variant is predicted to alter the protein’s amino acid sequence beginning at position 405 and lead to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. This variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM). |
Counsyl | RCV000664558 | SCV000788542 | pathogenic | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-05-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001039128 | SCV001202640 | pathogenic | not provided | 2024-01-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn405Ilefs*3) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is present in population databases (rs750228923, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 15671307, 25404053). ClinVar contains an entry for this variant (Variation ID: 189250). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001075757 | SCV001241387 | pathogenic | Retinal dystrophy | 2019-06-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454428 | SCV004182902 | pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000169682 | SCV004182903 | pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003454428 | SCV004208224 | pathogenic | Retinitis pigmentosa 39 | 2024-03-21 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000169682 | SCV002093995 | pathogenic | Usher syndrome type 2A | 2020-07-30 | no assertion criteria provided | clinical testing |