ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)

gnomAD frequency: 0.01117  dbSNP: rs148033592
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001547748 SCV001767528 likely benign not provided 2018-11-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30022773)
Fulgent Genetics, Fulgent Genetics RCV002492424 SCV002799389 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 2022-04-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542876 SCV004796384 benign GNAS-related disorder 2019-09-24 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000121162 SCV000085330 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001547748 SCV001799288 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000121162 SCV001921717 benign not specified no assertion criteria provided clinical testing

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