ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.821T>C (p.Phe274Ser)

dbSNP: rs1649516067
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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 RCV002043399 SCV002306636 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing 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 GNAT2 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. This variant has not been reported in the literature in individuals affected with GNAT2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 274 of the GNAT2 protein (p.Phe274Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796708 SCV005416206 likely pathogenic Achromatopsia 4 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PM3_Supporting

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