ClinVar Miner

Submissions for variant NM_001379270.1(CNGA1):c.1499A>G (p.Asp500Gly)

gnomAD frequency: 0.00004  dbSNP: rs372770176
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075247 SCV001240861 uncertain significance Retinal dystrophy 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862604 SCV002117460 uncertain significance not provided 2024-04-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 504 of the CNGA1 protein (p.Asp504Gly). This variant is present in population databases (rs372770176, gnomAD 0.002%). This missense change has been observed in individual(s) with CNGA1-related conditions (PMID: 32037395). This variant is also known as c.1511A>G, p.Asp573Gly . ClinVar contains an entry for this variant (Variation ID: 866887). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CNGA1 protein function with a positive predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002489723 SCV002792396 uncertain significance Retinitis pigmentosa; Retinitis pigmentosa 49 2022-01-19 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001075247 SCV004706553 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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