ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.609G>T (p.Trp203Cys)

gnomAD frequency: 0.00001  dbSNP: rs757650055
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001871957 SCV002275487 uncertain significance not provided 2021-04-18 criteria provided, single submitter clinical testing 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. 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 CNGA3 protein function. This variant has been observed in individual(s) with clinical features of CNGA3-related conditions (Invitae). This variant is present in population databases (rs757650055, ExAC 0.001%). This sequence change replaces tryptophan with cysteine at codon 203 of the CNGA3 protein (p.Trp203Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine.
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729889 SCV001571275 uncertain significance Achromatopsia 2 2021-04-15 no assertion criteria provided research

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