ClinVar Miner

Submissions for variant NM_001384910.1(GUCA1A):c.299A>G (p.Asp100Gly)

dbSNP: rs1768016995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075488 SCV001241112 likely pathogenic Retinal dystrophy 2018-10-23 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV001251242 SCV001426744 likely pathogenic Cone dystrophy 3 2020-06-05 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Cone-rod dystrophy 14, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation (PM1); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003325224 SCV004031060 pathogenic Cone-rod dystrophy 2023-08-31 criteria provided, single submitter clinical testing

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