ClinVar Miner

Submissions for variant NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs)

dbSNP: rs756235051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen 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, Neuberg Centre for Genomic Medicine 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, University of Leeds RCV001175402 SCV001245361 likely pathogenic Oguchi disease-2 2019-02-20 no assertion criteria provided clinical testing

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