ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser)

dbSNP: rs199474697
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543590 SCV001762266 likely pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001543590 SCV004292633 uncertain significance not provided 2022-11-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 156335). This missense change has been observed in individual(s) with achromatopsia (PMID: 21912902). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 276 of the CNGA3 protein (p.Asn276Ser). 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. 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.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144419 SCV000189474 not provided Achromatopsia 2 no assertion provided not provided

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