ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.738C>T (p.Phe246=)

gnomAD frequency: 0.00001  dbSNP: rs772094317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002195461 SCV002352427 likely benign not provided 2022-10-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494102 SCV002804323 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 2021-07-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531299 SCV004709547 likely benign GNAS-related disorder 2021-03-16 criteria provided, single submitter 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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