ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter)

gnomAD frequency: 0.00004  dbSNP: rs745308973
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625933 SCV000746522 pathogenic Achromatopsia 4 2020-05-03 criteria provided, single submitter clinical testing
GeneDx RCV002272306 SCV002558308 pathogenic not provided 2022-01-25 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Identified in a patient with cone dystrophy in the literature, although additional clinical information was not provided (Kim et al., 2019); This variant is associated with the following publications: (PMID: 31589614, 31144483, 31058429)
Labcorp Genetics (formerly Invitae), Labcorp RCV002272306 SCV003786337 pathogenic not provided 2022-11-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 522772). This premature translational stop signal has been observed in individual(s) with GNAT2-related conditions (PMID: 31058429, 31144483). This variant is present in population databases (rs745308973, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg161*) in the GNAT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNAT2 are known to be pathogenic (PMID: 12077706).
Genome-Nilou Lab RCV000625933 SCV004050190 pathogenic Achromatopsia 4 2023-04-11 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003483692 SCV004228473 pathogenic Achromatopsia 2024-01-09 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000625933 SCV000891383 pathogenic Achromatopsia 4 2018-06-12 no assertion criteria provided research

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