ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.623G>C (p.Arg208Thr)

dbSNP: rs995152260
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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 RCV001855940 SCV002168338 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 208 of the GNAT2 protein (p.Arg208Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with achromatopsia (PMID: 31058429). ClinVar contains an entry for this variant (Variation ID: 623279). 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 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.
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000761404 SCV000891388 uncertain significance Achromatopsia 4 2018-06-12 no assertion criteria provided research

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