ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.1031T>C (p.Ile344Thr)

gnomAD frequency: 0.00001  dbSNP: rs753014058
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367734 SCV001564094 uncertain significance not provided 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 344 of the GNAT2 protein (p.Ile344Thr). This variant is present in population databases (rs753014058, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GNAT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1058578). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GNAT2 protein function with a negative 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.
Ambry Genetics RCV003169872 SCV003874915 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.1031T>C (p.I344T) alteration is located in exon 8 (coding exon 8) of the GNAT2 gene. This alteration results from a T to C substitution at nucleotide position 1031, causing the isoleucine (I) at amino acid position 344 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003346526 SCV004050185 uncertain significance Achromatopsia 4 2023-04-11 criteria provided, single submitter clinical testing

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