Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596278 | SCV000702407 | pathogenic | not provided | 2016-10-26 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001074344 | SCV001239919 | likely pathogenic | Retinal dystrophy | 2019-07-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001269147 | SCV001448411 | likely pathogenic | Usher syndrome | 2020-11-02 | criteria provided, single submitter | clinical testing | Variant summary: USH2A c.6159delA (p.Glu2054LysfsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 3.2e-05 in 251396 control chromosomes (gnomAD). c.6159delA has been reported in the literature in individuals with Retinitis Pigmentosa phenotype (e.g. Wang_2014, Sharon_2020). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submitters (evaluation after 2014) cite the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
Labcorp Genetics |
RCV000596278 | SCV001590591 | pathogenic | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu2054Lysfs*10) 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 (rs769838859, gnomAD 0.08%). This premature translational stop signal has been observed in individual(s) with a USH2A-related condition (PMID: 25097241). ClinVar contains an entry for this variant (Variation ID: 497726). For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV003326139 | SCV004032321 | pathogenic | Usher syndrome type 2A | 2023-08-22 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PM3_VSTR,PM2_SUP; Identified as compund heterozygous with NM_206933.4:c.2299del |
Genome- |
RCV000667726 | SCV004181701 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003326139 | SCV004181702 | likely pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000667726 | SCV004200718 | pathogenic | Retinitis pigmentosa 39 | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000667726 | SCV000792222 | likely pathogenic | Retinitis pigmentosa 39 | 2017-06-12 | no assertion criteria provided | clinical testing | |
Sharon lab, |
RCV001003270 | SCV001161353 | pathogenic | Retinitis pigmentosa | 2019-06-23 | no assertion criteria provided | research |