ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.421G>A (p.Glu141Lys)

gnomAD frequency: 0.00001  dbSNP: rs768086755
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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 RCV001299821 SCV001488933 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing 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. 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 GNAT2 protein function. ClinVar contains an entry for this variant (Variation ID: 1003288). This variant has not been reported in the literature in individuals affected with GNAT2-related conditions. This variant is present in population databases (rs768086755, gnomAD 0.005%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 141 of the GNAT2 protein (p.Glu141Lys).
Ambry Genetics RCV004978263 SCV005595376 uncertain significance Inborn genetic diseases 2024-08-14 criteria provided, single submitter clinical testing The c.421G>A (p.E141K) alteration is located in exon 4 (coding exon 4) of the GNAT2 gene. This alteration results from a G to A substitution at nucleotide position 421, causing the glutamic acid (E) at amino acid position 141 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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