ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)

gnomAD frequency: 0.00001  dbSNP: rs769546153
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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 RCV001931633 SCV002205556 uncertain significance not provided 2023-04-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1431017). 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 GNAS 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 GNAS-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 123 of the GNAS protein (p.Glu123Lys). This variant is present in population databases (rs769546153, gnomAD 0.002%).
Fulgent Genetics, Fulgent Genetics RCV002479482 SCV002779021 uncertain significance McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A 2021-12-27 criteria provided, single submitter clinical testing

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