ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.818T>A (p.Leu273His)

gnomAD frequency: 0.00003  dbSNP: rs368906691
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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 RCV001211407 SCV001382947 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 273 of the GNAT2 protein (p.Leu273His). This variant is present in population databases (rs368906691, gnomAD 0.007%). 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: 941593). 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.
Ambry Genetics RCV002561758 SCV003551112 uncertain significance Inborn genetic diseases 2022-11-21 criteria provided, single submitter clinical testing The c.818T>A (p.L273H) alteration is located in exon 7 (coding exon 7) of the GNAT2 gene. This alteration results from a T to A substitution at nucleotide position 818, causing the leucine (L) at amino acid position 273 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003346369 SCV004050187 uncertain significance Achromatopsia 4 2023-04-11 criteria provided, single submitter clinical testing

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