Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003334033 | SCV004042573 | pathogenic | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | GRK1: PM3:Strong, PP1:Strong, PVS1:Moderate, PM2:Supporting, PS3:Supporting |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV001175402 | SCV004175865 | likely pathogenic | Oguchi disease-2 | 2023-03-01 | criteria provided, single submitter | clinical testing | The frameshift variant c.1610_1613del(p.Asp537ValfsTer7) in GRK1 gene has been reported in homozygous and compound heterozygous state in 2 individuals with Oguchi disease (Yamamoto S, et al., 1997, Skorczyk-Werner A, et al., 2015). The p.Asp537ValfsTer7 variant has 0.05% allele frequency in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes.This variant has been reported to the ClinVar database as Pathogenic/Likely Pathogenic. This variant causes a frameshift starting with codon Aspartic Acid 537, changes this amino acid to Valine residue, and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Asp537ValfsTer7. Although this variant is present in the last exon, it results in deletion of terminal 22 amino acid residues of retinal kinase protein (Yamamoto S, et al., 1997, Skorczyk-Werner A, et al., 2015). For these reasons, this variant has been classified as Likely Pathogenic. |
OMIM | RCV001175402 | SCV000034132 | pathogenic | Oguchi disease-2 | 1997-02-01 | no assertion criteria provided | literature only | |
Molecular Medicine, |
RCV001175402 | SCV001245361 | likely pathogenic | Oguchi disease-2 | 2019-02-20 | no assertion criteria provided | clinical testing |