ClinVar Miner

Submissions for variant NM_016592.5(GNAS):c.537G>A (p.Pro179=)

gnomAD frequency: 0.00072  dbSNP: rs181594534
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002506736 SCV002812613 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 2022-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536255 SCV004726515 benign GNAS-related disorder 2021-01-08 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).
Clinical Genetics, Academic Medical Center RCV001699985 SCV001924810 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726644 SCV001965852 likely benign not provided no assertion criteria provided clinical testing

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