ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser)

dbSNP: rs1178528306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052156 SCV002318657 uncertain significance Achromatopsia 3 2022-03-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000040). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.975>=0.6, 3CNET: 0.938>=0.75). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Clinical Genetics and Genomics, Karolinska University Hospital RCV002052156 SCV005013309 pathogenic Achromatopsia 3 2024-04-05 criteria provided, single submitter clinical testing

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