ClinVar Miner

Submissions for variant NM_001379270.1(CNGA1):c.1079G>A (p.Gly360Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003314304 SCV004013528 uncertain significance Retinitis pigmentosa 49 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.99; 3Cnet: 0.98). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with CNGA1 related disorder, and to co-segregate with the disease in at least one similarly affected relative/individual in the same family or similarly affected unrelated family (PMID: 25775262). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV004794634 SCV005415461 pathogenic Retinal dystrophy 2024-05-27 criteria provided, single submitter research

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