ClinVar Miner

Submissions for variant NM_002929.3(GRK1):c.1139T>A (p.Val380Asp)

gnomAD frequency: 0.00004  dbSNP: rs777094000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003225022 SCV003921343 pathogenic not provided 2022-10-19 criteria provided, single submitter clinical testing Published functional studies demonstrate reduced enzymatic activity and decreased protein expression (Khani et al., 1998); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 17070587, 22959359, 33252155, 9020843, 9501174)
OMIM RCV000013884 SCV000034131 pathogenic Oguchi disease-2 1997-02-01 no assertion criteria provided literature only
Molecular Medicine, University of Leeds RCV000013884 SCV001245356 likely pathogenic Oguchi disease-2 2019-02-20 no assertion criteria provided research

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