Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674880 | SCV000800288 | likely pathogenic | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2018-05-30 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000734827 | SCV000862999 | pathogenic | not provided | 2018-08-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000734827 | SCV001222109 | pathogenic | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln4371Argfs*19) 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 (rs768161313, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with USH2A-related conditions (PMID: 28894305; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 558585). For these reasons, this variant has been classified as Pathogenic. |
3billion | RCV000985058 | SCV002521878 | pathogenic | Usher syndrome type 2A | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000558585 / PMID: 31674169 / 3billion dataset). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Prevention |
RCV004535690 | SCV004114419 | pathogenic | USH2A-related disorder | 2023-01-22 | criteria provided, single submitter | clinical testing | The USH2A c.13112_13115delAAAT variant is predicted to result in a frameshift and premature protein termination (p.Gln4371Argfs*19). This variant has been previously reported in the compound heterozygous state in individuals with sensorineural hearing loss, retinitis pigmentosa/Usher syndrome type II (Sengillo et al. 2017. PubMed ID: 28894305; Lee et al. 2020. PubMed ID: 31674169; Gao et al. 2021. PubMed ID: 32188678; Zhu et al. 2021. PubMed ID: 32675063). This variant is reported in 0.015% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-215848137-CATTT-C). Frameshift variants in USH2A are expected to be pathogenic. This variant is interpreted as pathogenic. |
Genome- |
RCV003223665 | SCV004181909 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000985058 | SCV004181910 | likely pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003223665 | SCV004208387 | pathogenic | Retinitis pigmentosa 39 | 2024-02-13 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV003889966 | SCV004707250 | pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Biochemical Molecular Genetic Laboratory, |
RCV000985058 | SCV001133000 | likely pathogenic | Usher syndrome type 2A | 2019-09-15 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000985058 | SCV002088281 | pathogenic | Usher syndrome type 2A | 2020-09-30 | no assertion criteria provided | clinical testing | |
OMIM | RCV003223665 | SCV003841032 | pathogenic | Retinitis pigmentosa 39 | 2023-04-17 | no assertion criteria provided | literature only |