ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.684C>T (p.Arg228=)

gnomAD frequency: 0.00004  dbSNP: rs147984566
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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 RCV000921458 SCV001066860 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495539 SCV002803798 likely benign 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 2021-09-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735889 SCV005365030 likely benign GNAS-related disorder 2024-04-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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