ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.221C>T (p.Ser74Phe)

gnomAD frequency: 0.00002  dbSNP: rs762689312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585434 SCV000693277 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000585434 SCV001219266 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 74 of the CNGB3 protein (p.Ser74Phe). This variant is present in population databases (rs762689312, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CNGB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 493482). 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 not expected to disrupt CNGB3 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.
Natera, Inc. RCV001272754 SCV001455013 uncertain significance Achromatopsia 2019-12-31 no assertion criteria provided clinical testing

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